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Disease on EC 3.5.1.12 - biotinidase

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DISEASE
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3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Abetalipoproteinemia
Vitamin-Responsive Movement Disorders in Children.
acetyl-coa c-acyltransferase deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Acidosis
Biotinidase deficiency--a treatable entity.
Biotinidase deficiency: two cases of very early presentation.
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Multiple carboxylase deficiency due to deficiency of biotinidase.
Acidosis, Lactic
"Cerebral" lactic acidosis and biotinidase deficiency.
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
Acne Vulgaris
Elevated plasma homocysteine levels in patients on isotretinoin therapy for cystic acne.
The effect of isotretinoin on biotinidase activity.
Acrodermatitis
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.
Inborn errors of biotin metabolism.
acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Vitamins and inherited human errors of metabolism.
Adrenal Hyperplasia, Congenital
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
Austrian Newborn Screening Program: a perspective of five decades.
Comprehensive cost-utility analysis of newborn screening strategies.
Current approaches to genetic metabolic screening in newborns.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Expanded newborn screening in Greece: 30 months of experience.
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.
Introduction to the newborn screening fact sheets.
Neonatal biochemical screening for disease.
Neonatal screening in Europe; the situation in 2004.
Newborn screening conditions: What we know, what we do not know, and how we will know it.
Newborn screening fact sheets.
Newborn Screening: What Does the Emergency Physician Need to Know?
The magnitude and challenge of false-positive newborn screening test results.
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
[Model project for updating neonatal screening in Bavaria: concept and initial results]
[Updating neonatal neurometabolic screening]
Adrenoleukodystrophy
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Alopecia
A girl with spastic tetraparesis associated with biotinidase deficiency.
Basal ganglia calcifications in a case of biotinidase deficiency.
Biotinidase deficiency characterized by skin and hair findings.
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Epilepsy in biotinidase deficiency after biotin treatment.
Inborn errors of biotin metabolism.
Infantile spasms as the initial symptom of biotinidase deficiency.
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid.
Skin signs of nutritional disorders.
The effect of isotretinoin on biotinidase activity.
The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid.
The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity.
Wide Range of Biotin (Vitamin H) Content in Foodstuffs and Powdered Milks as Assessed by High-performance Affinity Chromatography.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
alpha-Thalassemia
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Anemia, Sickle Cell
Introduction to the newborn screening fact sheets.
Newborn screening fact sheets.
Newborn Screening: What Does the Emergency Physician Need to Know?
[Updating neonatal neurometabolic screening]
Argininosuccinic Aciduria
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
aromatic-l-amino-acid decarboxylase deficiency
Vitamin-Responsive Movement Disorders in Children.
arylsulfatase (type i) deficiency
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Ataxia
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Ataxia.
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.
Basal ganglia calcifications in a case of biotinidase deficiency.
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
Epilepsy in biotinidase deficiency after biotin treatment.
Vitamin-Responsive Movement Disorders in Children.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Basal Ganglia Diseases
Vitamin-Responsive Movement Disorders in Children.
beta-Thalassemia
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Biotin metabolism defect - A case report.
Late-onset holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Vitamins and inherited human errors of metabolism.
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
[Multiple carboxylase deficiency]
Biotinidase Deficiency
"Cerebral" lactic acidosis and biotinidase deficiency.
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder.
A biotinidase Km variant causing late onset bilateral optic neuropathy.
A boy with spastic paraparesis and dyspnea.
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit.
A case of partial biotinidase deficiency associated with autism.
A colorimetric assay of lipoyl-N-epsilon-lysine hydrolysis activity using 2,6-dibromoquinone-4-chlorimide.
A girl with spastic tetraparesis associated with biotinidase deficiency.
A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots.
A new quantitative analytical method of serum biotinidase activity using biocytin as a substrate and its clinical significance in Japan.
A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency.
A qualitative assessment of biotinidase deficiency.
A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.
A screening method for biotinidase deficiency in newborns.
A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals.
A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency.
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Abnormal Cerebrospinal Fluid Biochemistry in Biotinidase Deficiency Causing Diagnostic Conundrum.
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
Adult-Onset Biotinidase Deficiency Induces Acutely Progressing Leukoencephalopathy.
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase.
An Overview of Hereditary Hearing Loss.
Analysis of mutations causing biotinidase deficiency.
Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.
Are we missing patients with biotinidase deficiency in France?
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.
Ataxia.
Audiologic findings in children with biotinidase deficiency in Turkey.
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.
Austrian Newborn Screening Program: a perspective of five decades.
Autism: Screening of inborn errors of metabolism and unexpected results.
Automated generation of decision-tree models for the economic assessment of interventions for rare diseases using the RaDiOS ontology.
Basal ganglia calcifications in a case of biotinidase deficiency.
Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency.
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.
Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells.
Biocytin-specific 110-kDa biotinidase from human serum.
Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood-brain barrier.
Biotin and biotinidase deficiency.
Biotin interference in immunoassays based on biotin-strept(avidin) chemistry: An emerging threat.
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotin responsive seizures and encephalopathy due to biotinidase deficiency.
Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion.
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency.
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Biotinidase activity in patients with liver disease.
Biotinidase and its roles in biotin metabolism.
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents.
Biotinidase deficiency and our champagne legacy.
Biotinidase deficiency and the eye and ear.
Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.
Biotinidase deficiency associated with renal loss of biocytin and biotin.
Biotinidase deficiency associated with severe combined immunodeficiency.
Biotinidase deficiency characterized by skin and hair findings.
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.
Biotinidase deficiency in a newborn.
Biotinidase deficiency in black children.
Biotinidase deficiency in childhood.
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report.
Biotinidase deficiency in Pakistani children; what needs to be known and done.
Biotinidase deficiency in Scotland.
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.
Biotinidase deficiency masquerading as multiple sclerosis?
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Biotinidase deficiency mimicking primary immune deficiencies.
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.
Biotinidase Deficiency Presenting as Recurrent Laryngeal Stridor.
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.
Biotinidase deficiency with hypertonia as unusual feature.
Biotinidase deficiency with neurological features resembling multiple sclerosis.
Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity.
Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.
Biotinidase deficiency--a treatable entity.
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference!
Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study.
Biotinidase deficiency.
Biotinidase Deficiency.
Biotinidase deficiency.
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"
Biotinidase deficiency: a boy with angular cheilitis and blepharitis.
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.
Biotinidase deficiency: a novel vitamin recycling defect.
Biotinidase deficiency: a rare cause of laryngeal stridor.
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series).
Biotinidase deficiency: a survey of 10 cases.
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
Biotinidase deficiency: A treatable cause of infantile seizures.
Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults?.
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Biotinidase deficiency: a treatable leukoencephalopathy.
Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism.
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Biotinidase deficiency: An atypical presentation.
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
Biotinidase deficiency: clinical course and biochemical findings.
Biotinidase deficiency: early neurological presentation.
Biotinidase deficiency: factors responsible for the increased biotin requirement.
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Biotinidase deficiency: initial clinical features and rapid diagnosis.
Biotinidase deficiency: metabolites in CSF.
Biotinidase Deficiency: New Directions and Practical Concerns.
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Biotinidase deficiency: Novel mutations in Algerian patients.
Biotinidase deficiency: presymptomatic treatment.
Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Biotinidase deficiency: result of treatment with biotin from age 12 years.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin.
Biotinidase deficiency: two cases of very early presentation.
Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: Clues for the pathogenesis in the human inherited disorder.
Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice.
Biotinidase: its role in biotinidase deficiency and biotin metabolism.
Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency.
Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency.
Brainstem and Spinal Cord Lesions Associated with Skin Changes and Hearing Loss: Think of Biotinidase Deficiency.
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia.
Cerebral metabolic change after treatment in biotinidase deficiency.
Cerebral metabolic changes in biotinidase deficiency.
Cerebrospinal fluid organic acids in biotinidase deficiency.
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency.
Characterization of seizures associated with biotinidase deficiency.
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association.
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype.
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency.
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.
Clinical issues and frequent questions about biotinidase deficiency.
Clinical utility gene card for: Biotinidase deficiency.
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population.
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.
Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.
Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor ?1 and biotinidase deficiencies.
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
Comment on: Childhood optic atrophy in biotinidase deficiency.
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity.
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
Comprehensive cost-utility analysis of newborn screening strategies.
Congenital biotinidase deficiency - MRI findings in two cases.
Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster.
Correction to: Biotinidase Deficiency Presenting as Recurrent Laryngeal Stridor.
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84].
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.
Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design.
Current approaches to genetic metabolic screening in newborns.
Current trends in the treatment of infantile spasms.
Cutaneous and neurologic manifestations of biotinidase deficiency.
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.
Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution.
Delayed-onset profound biotinidase deficiency.
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.
Detection of biocytin in urine of children with congenital biotinidase deficiency.
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
Deteriorating neurological and neuroradiological course in treated biotinidase deficiency.
Determination of biocytin.
Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening.
Developmental window of sensorineural deafness in biotinidase-deficient mice.
Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon.
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan.
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.
Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
Effect of BTD gene variants on in vitro biotinidase activity.
Effects of age and biotin status on postnatal development of plasma biotinidase activity in rats.
Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male.
Enzyme studies in biotin-responsive disorders.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Epilepsy in biotinidase deficiency after biotin treatment.
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.
Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization.
Examination of the signal peptide region of human biotinidase using a baculovirus expression system.
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Expanded newborn screening in Greece: 30 months of experience.
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.
Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats.
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.
First trimester prenatal exclusion of biotinidase deficiency.
Forty-eight novel mutations causing biotinidase deficiency.
Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.
Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency.
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.
Hearing loss in biotinidase deficiency.
Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
High frequency of biotinidase deficiency in Italian population identified by newborn screening.
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.
High incidence of partial biotinidase deficiency cases in newborns of Greek origin.
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Human serum biotinidase. cDNA cloning, sequence, and characterization.
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.
Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals.
Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency.
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Inborn errors of biotin metabolism.
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Incidence of biotinidase deficiency in Turkish newborns.
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
Infantile spasms as the initial symptom of biotinidase deficiency.
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.
Introduction to the newborn screening fact sheets.
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.
Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
Late-onset holocarboxylase synthetase deficiency.
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
Lipoamidase activity in human serum is due to biotinidase.
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum.
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.
Long-term auditory and visual complications of biotinidase deficiency.
Long-term follow-up of hearing loss in biotinidase deficiency.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results.
Low serum biotinidase activity in children with valproic acid monotherapy.
Management of anesthesia in biotinidase deficiency.
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
Multiple carboxylase deficiency due to deficiency of biotinidase.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism.
Mutations in BTD causing biotinidase deficiency.
Mutations in BTD gene causing biotinidase deficiency: a regional report.
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
Na(+)-dependent biotin transport into brush-border membrane vesicles from rat kidney.
Neonatal biochemical screening for disease.
Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.
Neonatal screening for biotinidase deficiency in east-Hungary.
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.
Neonatal screening for biotinidase deficiency in north eastern Italy.
Neonatal screening for biotinidase deficiency.
Neonatal screening for biotinidase deficiency. A pilot study in Scotland.
Neonatal screening for biotinidase deficiency: A 30-year single center experience.
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study.
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Neonatal screening in Europe; the situation in 2004.
Neurologic symptoms of biotinidase deficiency: possible explanation.
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Neuropathology of biotinidase deficiency.
Newborn screening conditions: What we know, what we do not know, and how we will know it.
Newborn screening fact sheets.
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
Newborn Screening: What Does the Emergency Physician Need to Know?
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency.
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder.
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Novel mutations cause biotinidase deficiency in Turkish children.
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
Nutritional therapy for selected inborn errors of metabolism.
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
Ohtahara Syndrome With Biotinidase Deficiency.
Ophthalmologic findings in biotinidase deficiency.
Optic neuritis in a child with biotinidase deficiency: case report and literature review.
Optic neuropathy due to biotinidase deficiency in a 19-year-old man.
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.
Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.
Partial biotinidase deficiency associated with Coffin-Siris syndrome.
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Partial biotinidase deficiency: clinical and biochemical features.
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn.
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency.
Phenotypic variability in biotinidase deficiency.
Phenotypic variation in biotinidase deficiency.
Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism.
Potential for prenatal diagnosis of biotinidase deficiency.
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Profound biotinidase deficiency in two asymptomatic adults.
Profound biotinidase deficiency: a rare disease among native Swedes.
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns.
Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples.
Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC).
Rat as a potential model for hearing loss in biotinidase deficiency.
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.
Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis?
Requirement of high biotin doses in a case of biotinidase deficiency.
Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
Reversible deafness caused by biotinidase deficiency.
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities.
Screening for biotinidase deficiency in newborns: worldwide experience.
Screening for biotinidase deficiency in some skin diseases.
Screening for biotinidase deficiency.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid.
Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays.
Seventeen novel mutations that cause profound biotinidase deficiency.
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Sickle-cell disease not identified by newborn screening because of prior transfusion.
Simon has biotinidase deficiency.
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Skin manifestations of biotin deficiency.
Skin signs of nutritional disorders.
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients.
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Statistical approaches for the detection of heterozygotes for biotinidase deficiency.
Structure of the human biotinidase gene.
Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature.
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
Successful pregnancy in a treated patient with biotinidase deficiency.
Sudden death associated with biotinidase deficiency.
Technical standards and guidelines for the diagnosis of biotinidase deficiency.
The Biotinidase Gene Variants Registry: A Paradigm Public Database.
The effect of isotretinoin on biotinidase activity.
The effect of neonatal jaundice on biotinidase activity.
The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid.
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
The influence of valproic acid treatment on hair and serum zinc levels and serum biotinidase activity.
The magnitude and challenge of false-positive newborn screening test results.
The management and long term outcome of organic acidaemias.
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
The neurology of biotinidase deficiency.
The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family.
The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals.
Three dimensional structure of human biotinidase: computer modeling and functional correlations.
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
Two unusual clinical and radiological presentations of biotinidase deficiency.
VACTERL association: a new case with biotinidase deficiency and annular pancreas.
Visual Loss in Biotinidase Deficiency.
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Vitamin-Responsive Movement Disorders in Children.
Worldwide survey of neonatal screening for biotinidase deficiency.
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
[Biotinidase deficiency (late-onset multiple carboxylase deficiency)]
[Biotinidase deficiency and eye]
[Biotinidase deficiency and vascular ring malformation: case report].
[Biotinidase deficiency--a case report]
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
[Biotinidase deficiency. Its form of presentation and response to treatment]
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]
[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H]
[Biotinidase deficiency: disease with mainly neurocutaneous manifestations responding to biotin]
[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment]
[Biotinidase deficiency: the two faces of metabolic screening.]
[Biotinidase deficiency]
[Changes in the hair in a case of biotinidase deficiency]
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease.]
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients]
[Epileptic encephalopathy due to partial biotinidase deficiency]
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
[Juvenile optic neuropathy caused by Km variants of biotinidase]
[Model project for updating neonatal screening in Bavaria: concept and initial results]
[Multiple carboxylase deficiency]
[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]
[Optic neuropathy in biotinidase deficiency]
[Prevalence study of biotinidase deficiency in newborns]
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
[The criteria of early detection of biotinidase deficiency-based epilepsy].
[The hair in a case of biotinidase deficiency]
[The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening]
[Updating neonatal neurometabolic screening]
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]
[Vitamin-responsive epilepsies: An update.]
[West's syndrome. Analysis, aetiological factors and therapeutic options]
Blepharitis
Biotinidase deficiency: a boy with angular cheilitis and blepharitis.
Brain Diseases
Biotin responsive seizures and encephalopathy due to biotinidase deficiency.
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Ohtahara Syndrome With Biotinidase Deficiency.
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
[Epileptic encephalopathy due to partial biotinidase deficiency]
Brain Diseases, Metabolic
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.
Brain Neoplasms
Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature.
Breast Neoplasms
Differential profiling of breast cancer plasma proteome by isotope-coded affinity tagging method reveals biotinidase as a breast cancer biomarker.
Candidiasis
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency.
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency.
Carcinoma, Hepatocellular
Biotinidase activity in patients with liver disease.
Effect of fucoidan on the biotinidase kinetics in human hepatocellular carcinoma.
Celiac Disease
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia.
Cheilitis
Biotinidase deficiency: a boy with angular cheilitis and blepharitis.
Citrullinemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Coma
Biotinidase deficiency and our champagne legacy.
Congenital Abnormalities
[Biotinidase deficiency and vascular ring malformation: case report].
Congenital Disorders of Glycosylation
[West's syndrome. Analysis, aetiological factors and therapeutic options]
Congenital Hypothyroidism
Austrian Newborn Screening Program: a perspective of five decades.
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Comprehensive cost-utility analysis of newborn screening strategies.
Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.
Introduction to the newborn screening fact sheets.
Newborn screening conditions: What we know, what we do not know, and how we will know it.
Newborn screening fact sheets.
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
Newborn Screening: What Does the Emergency Physician Need to Know?
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates.
The magnitude and challenge of false-positive newborn screening test results.
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
[Updating neonatal neurometabolic screening]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood-brain barrier.
Expanded newborn screening in Greece: 30 months of experience.
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Conjunctivitis
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Epilepsy in biotinidase deficiency after biotin treatment.
Cystic Fibrosis
A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.
Austrian Newborn Screening Program: a perspective of five decades.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Expanded newborn screening in Greece: 30 months of experience.
Introduction to the newborn screening fact sheets.
Neonatal biochemical screening for disease.
Neonatal screening in Europe; the situation in 2004.
Newborn screening fact sheets.
Newborn Screening: What Does the Emergency Physician Need to Know?
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]
[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]
[Updating neonatal neurometabolic screening]
Cysts
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency.
Deafness
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
Developmental window of sensorineural deafness in biotinidase-deficient mice.
Epilepsy in biotinidase deficiency after biotin treatment.
Reversible deafness caused by biotinidase deficiency.
Deficiency Diseases
[Biotinidase deficiency: disease with mainly neurocutaneous manifestations responding to biotin]
Demyelinating Diseases
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients.
Dermatitis
Biotinidase deficiency characterized by skin and hair findings.
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Epilepsy in biotinidase deficiency after biotin treatment.
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Dermatitis, Atopic
Oral biotin treatment is effective for atopic dermatitis in children with low biotinidase activity.
Dermatitis, Seborrheic
Infantile spasms as the initial symptom of biotinidase deficiency.
The effect of isotretinoin on biotinidase activity.
Diabetes Mellitus, Type 1
Urinary biotinidase and alanine excretion in patients with insulin-dependent diabetes mellitus.
Diffuse Cerebral Sclerosis of Schilder
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
Down Syndrome
Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution.
Dyslipidemias
Elevated plasma homocysteine levels in patients on isotretinoin therapy for cystic acne.
Eczema
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Encephalitis
Ataxia.
Epilepsies, Myoclonic
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
Epilepsy
Abnormal Cerebrospinal Fluid Biochemistry in Biotinidase Deficiency Causing Diagnostic Conundrum.
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Epilepsy in biotinidase deficiency after biotin treatment.
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.
[The criteria of early detection of biotinidase deficiency-based epilepsy].
Erythema
Skin signs of nutritional disorders.
Exanthema
Basal ganglia calcifications in a case of biotinidase deficiency.
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Familial Mediterranean Fever
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Fanconi Syndrome
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.
Galactosemias
A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.
Austrian Newborn Screening Program: a perspective of five decades.
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Comprehensive cost-utility analysis of newborn screening strategies.
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Neonatal biochemical screening for disease.
Newborn screening fact sheets.
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
Newborn Screening: What Does the Emergency Physician Need to Know?
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Sickle-cell disease not identified by newborn screening because of prior transfusion.
The magnitude and challenge of false-positive newborn screening test results.
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
[Updating neonatal neurometabolic screening]
Gastroenteritis
Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency.
Gaucher Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Genetic Diseases, Inborn
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents.
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Glaucoma
Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.
glucose-6-phosphate dehydrogenase (nadp+) deficiency
Neonatal biochemical screening for disease.
Glucosephosphate Dehydrogenase Deficiency
Autism: Screening of inborn errors of metabolism and unexpected results.
Neonatal biochemical screening for disease.
Glycogen Storage Disease
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
High biotinidase activity in type Ia glycogen storage disease.
Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation.
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
Serum biotinidase activity in children with chronic liver disease and its clinical significance.
Hartnup Disease
Ataxia.
Hearing Loss
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
An Overview of Hereditary Hearing Loss.
Audiologic findings in children with biotinidase deficiency in Turkey.
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice.
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Developmental window of sensorineural deafness in biotinidase-deficient mice.
Effect of perinatal biotin deficiency on auditory pathway of the Wistar-Albino rats.
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hearing loss in biotinidase deficiency.
Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
Introduction to the newborn screening fact sheets.
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.
Long-term follow-up of hearing loss in biotinidase deficiency.
Newborn screening fact sheets.
Rat as a potential model for hearing loss in biotinidase deficiency.
Reversible deafness caused by biotinidase deficiency.
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease.]
Hearing Loss, Sensorineural
Audiologic findings in children with biotinidase deficiency in Turkey.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.
Hemoglobinopathies
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Neonatal biochemical screening for disease.
Newborn screening fact sheets.
Newborn Screening: What Does the Emergency Physician Need to Know?
Hepatitis
Biotinidase activity in patients with liver disease.
Effect of fucoidan on the biotinidase kinetics in human hepatocellular carcinoma.
Serum biotinidase activity in children with chronic liver disease and its clinical significance.
[Clinical evaluation of serum biotin levels and biotinidase activities in patients with various liver diseases]
Hepatitis B, Chronic
Maternal chronic hepatitis B virus does not affect neonatal biotinidase activity.
Hepatitis, Chronic
Effect of fucoidan on the biotinidase kinetics in human hepatocellular carcinoma.
Hepatolenticular Degeneration
Serum biotinidase activity in children with chronic liver disease and its clinical significance.
Holocarboxylase Synthetase Deficiency
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Biotin metabolism defect - A case report.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Late-onset holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Vitamins and inherited human errors of metabolism.
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency.]
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
[Multiple carboxylase deficiency]
homocitrate synthase deficiency
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency]
Homocystinuria
Autism: Screening of inborn errors of metabolism and unexpected results.
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Comprehensive cost-utility analysis of newborn screening strategies.
Current approaches to genetic metabolic screening in newborns.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Newborn screening fact sheets.
Newborn Screening: What Does the Emergency Physician Need to Know?
Vitamins and inherited human errors of metabolism.
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
[Updating neonatal neurometabolic screening]
hydroxymethylglutaryl-coa lyase deficiency
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Hyperargininemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Hyperglycinemia, Nonketotic
A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.
Hyperlipoproteinemia Type I
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
Hypertension, Portal
Serum biotinidase activity in children with chronic liver disease and its clinical significance.
Hypertriglyceridemia
Glycogen storage disease type Ia: frequency and clinical course in Turkish children.
Hyperventilation
A girl with spastic tetraparesis associated with biotinidase deficiency.
Hypoglycemia
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Hypothyroidism
Ataxia.
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
Infections
Maternal chronic hepatitis B virus does not affect neonatal biotinidase activity.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Intellectual Disability
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
Ischemic Stroke
Ataxia.
isovaleryl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Jaundice, Neonatal
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
The effect of neonatal jaundice on biotinidase activity.
Ketosis
Biotinidase deficiency--a treatable entity.
Phenotypic variation in biotinidase deficiency.
Kwashiorkor
Skin signs of nutritional disorders.
Leigh Disease
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
Lethargy
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Leukemia
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents.
Leukemia, Myelomonocytic, Juvenile
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents.
Leukoencephalopathies
Adult-Onset Biotinidase Deficiency Induces Acutely Progressing Leukoencephalopathy.
Biotinidase deficiency: a treatable leukoencephalopathy.
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
lipoprotein lipase deficiency
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
Liver Cirrhosis
Biotinidase activity in patients with liver disease.
Decrease in plasma biotinidase activity with normal albumin concentrations in experimental liver fibrosis.
Effect of fucoidan on the biotinidase kinetics in human hepatocellular carcinoma.
Increased plasma biotinidase activity in rats with paracetamol-induced acute liver injury.
Liver Diseases
Biotinidase activity in patients with liver disease.
Serum biotinidase activity in children with chronic liver disease and its clinical significance.
Serum biotinidase is a sensitive and specific biochemical marker of hepatic dysfunction: A preliminary report.
[Clinical evaluation of serum biotin levels and biotinidase activities in patients with various liver diseases]
Liver Diseases, Alcoholic
[Clinical evaluation of serum biotin levels and biotinidase activities in patients with various liver diseases]
long-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Lymphohistiocytosis, Hemophagocytic
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.
Lysosomal Storage Diseases
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.
Magnesium Deficiency
Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea.
Maple Syrup Urine Disease
Ataxia.
Comprehensive cost-utility analysis of newborn screening strategies.
Current approaches to genetic metabolic screening in newborns.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Introduction to the newborn screening fact sheets.
Newborn screening compared to clinical identification of biochemical genetic disorders.
Newborn screening fact sheets.
Newborn Screening: What Does the Emergency Physician Need to Know?
The management and long term outcome of organic acidaemias.
Vitamins and inherited human errors of metabolism.
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
[Updating neonatal neurometabolic screening]
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]
Massive Hepatic Necrosis
Serum biotinidase activity in children with chronic liver disease and its clinical significance.
medium-chain acyl-coa dehydrogenase deficiency
Comprehensive cost-utility analysis of newborn screening strategies.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Expanded newborn screening in Greece: 30 months of experience.
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Introduction to the newborn screening fact sheets.
Neonatal screening in Europe; the situation in 2004.
Newborn screening fact sheets.
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Meningitis
Changes in cerebrospinal fluid biotinidase activity in Staphylococcus aureus meningitis.
Metabolic Diseases
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotinidase deficiency characterized by skin and hair findings.
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"
Biotinidase Deficiency: New Directions and Practical Concerns.
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Newborn screening compared to clinical identification of biochemical genetic disorders.
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H]
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease.]
[Epileptic syndromes in the first year of life and congenital errors of metabolism]
Metabolic Syndrome
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit.
Metabolism, Inborn Errors
Expanded newborn screening in Greece: 30 months of experience.
Neonatal screening for biotinidase deficiency in north eastern Italy.
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Vitamins and inherited human errors of metabolism.
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]
methylcrotonoyl-coa carboxylase deficiency
The management and long term outcome of organic acidaemias.
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
methylmalonyl-coa mutase deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Migraine Disorders
Ataxia.
Miller Fisher Syndrome
Ataxia.
Mitochondrial Diseases
Autism: Screening of inborn errors of metabolism and unexpected results.
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
Motor Neuron Disease
A biotinidase Km variant causing late onset bilateral optic neuropathy.
[Juvenile optic neuropathy caused by Km variants of biotinidase]
Mucopolysaccharidoses
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Mucopolysaccharidosis II
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Mucopolysaccharidosis VI
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Vitamins and inherited human errors of metabolism.
Multiple Carboxylase Deficiency
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
A qualitative assessment of biotinidase deficiency.
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Deficient liver biotinidase activity in multiple carboxylase deficiency.
Enzyme studies in biotin-responsive disorders.
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Late-onset holocarboxylase synthetase deficiency.
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
Multiple carboxylase deficiency due to deficiency of biotinidase.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Neonatal screening for biotinidase deficiency in east-Hungary.
Neonatal screening for biotinidase deficiency.
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]
Multiple Sclerosis
Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.
Ataxia.
Biotin interference in immunoassays based on biotin-strept(avidin) chemistry: An emerging threat.
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.
Biotinidase deficiency with neurological features resembling multiple sclerosis.
Multiple Sulfatase Deficiency Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Muscle Hypotonia
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism.
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
Muscle Spasticity
A girl with spastic tetraparesis associated with biotinidase deficiency.
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Delayed-onset profound biotinidase deficiency.
Muscular Diseases
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
Muscular Dystrophy, Duchenne
Neonatal biochemical screening for disease.
Myelitis, Transverse
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
Neoplasm Metastasis
Biotinidase is a Novel Marker for Papillary Thyroid Cancer Aggressiveness.
Neoplasms
Ataxia.
Biotin reagents for antibody pretargeting. Synthesis, radioiodination, and in vitro evaluation of water soluble, biotinidase resistant biotin derivatives.
Biotinidase is a Novel Marker for Papillary Thyroid Cancer Aggressiveness.
Extension of the single amino acid chelate concept (SAAC) to bifunctional biotin analogues for complexation of the M(CO)3(+1) Core (M = Tc and Re): syntheses, characterization, biotinidase stability, and avidin binding.
Identification of a gene-expression signature for predicting lymph node metastasis in patients with early stage cervical carcinoma.
Lipoamidase activity in virus induced tumours and in the corresponding normal tissue.
Repression of Biotin-Related Proteins by Benzo[a]Pyrene-Induced Epigenetic Modifications in Human Bronchial Epithelial Cells.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Nervous System Diseases
Neuropathology of biotinidase deficiency.
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients.
Netherton Syndrome
A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report.
Neuroblastoma
Ataxia.
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Neurocutaneous Syndromes
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report.
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"
Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Clinical issues and frequent questions about biotinidase deficiency.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon.
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Neurologic Manifestations
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder.
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Cutaneous and neurologic manifestations of biotinidase deficiency.
Neurologic symptoms of biotinidase deficiency: possible explanation.
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
Neuromyelitis Optica
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.
Niemann-Pick Diseases
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Nodding Syndrome
Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design.
Optic Atrophy
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Comment on: Childhood optic atrophy in biotinidase deficiency.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
Optic neuritis in a child with biotinidase deficiency: case report and literature review.
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
Optic Nerve Diseases
A biotinidase Km variant causing late onset bilateral optic neuropathy.
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.
Optic neuropathy due to biotinidase deficiency in a 19-year-old man.
[Juvenile optic neuropathy caused by Km variants of biotinidase]
[Optic neuropathy in biotinidase deficiency]
Optic Neuritis
Optic neuritis in a child with biotinidase deficiency: case report and literature review.
ornithine carbamoyltransferase deficiency
Ataxia.
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]
Ornithine Carbamoyltransferase Deficiency Disease
Ataxia.
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]
pantoate-beta-alanine ligase (amp-forming) deficiency
Nutritional therapy for selected inborn errors of metabolism.
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
Paraparesis
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
Paraparesis, Spastic
A boy with spastic paraparesis and dyspnea.
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Paraplegia
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia.
Paresis
Delayed-onset profound biotinidase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
A qualitative assessment of biotinidase deficiency.
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Biotinidase activity in patients with liver disease.
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Biotinidase deficiency: a novel vitamin recycling defect.
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Biotinidase deficiency: initial clinical features and rapid diagnosis.
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.
Deficient liver biotinidase activity in multiple carboxylase deficiency.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Enzyme studies in biotin-responsive disorders.
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Late-onset holocarboxylase synthetase deficiency.
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum.
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
Multiple carboxylase deficiency due to deficiency of biotinidase.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
Neonatal screening for biotinidase deficiency in east-Hungary.
Neonatal screening for biotinidase deficiency.
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
Phenotypic variation in biotinidase deficiency.
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
The management and long term outcome of organic acidaemias.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]
Peripheral Nervous System Diseases
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.
Phenylketonurias
A qualitative assessment of biotinidase deficiency.
A screening method for biotinidase deficiency in newborns.
Austrian Newborn Screening Program: a perspective of five decades.
Autism: Screening of inborn errors of metabolism and unexpected results.
Biotinidase activity in patients with phenylketonuria.
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Comprehensive cost-utility analysis of newborn screening strategies.
Current trends in the treatment of infantile spasms.
Expanded newborn screening in Greece: 30 months of experience.
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Introduction to the newborn screening fact sheets.
Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Newborn screening fact sheets.
Newborn Screening: What Does the Emergency Physician Need to Know?
The magnitude and challenge of false-positive newborn screening test results.
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
[Updating neonatal neurometabolic screening]
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]
Premature Birth
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Primary Immunodeficiency Diseases
Biotinidase deficiency mimicking primary immune deficiencies.
Propionic Acidemia
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]
pyruvate dehydrogenase (nadp+) deficiency
Ataxia.
Vitamin-Responsive Movement Disorders in Children.
Pyruvate Dehydrogenase Complex Deficiency Disease
Ataxia.
Vitamin-Responsive Movement Disorders in Children.
Quadriplegia
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Respiratory Insufficiency
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit.
Seizures
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.
Biotin responsive seizures and encephalopathy due to biotinidase deficiency.
Biotinidase deficiency in childhood.
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.
Biotinidase deficiency: A treatable cause of infantile seizures.
Biotinidase deficiency: initial clinical features and rapid diagnosis.
Characterization of seizures associated with biotinidase deficiency.
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Current trends in the treatment of infantile spasms.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Epilepsy in biotinidase deficiency after biotin treatment.
Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease.]
[Multiple carboxylase deficiency]
[Vitamin-responsive epilepsies: An update.]
Sepsis
Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male.
Severe Combined Immunodeficiency
Biotinidase deficiency associated with severe combined immunodeficiency.
short-chain acyl-coa dehydrogenase deficiency
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Skin Diseases
Screening for biotinidase deficiency in some skin diseases.
Wide Range of Biotin (Vitamin H) Content in Foodstuffs and Powdered Milks as Assessed by High-performance Affinity Chromatography.
Sotos Syndrome
Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity.
Spasms, Infantile
Current trends in the treatment of infantile spasms.
Infantile spasms as the initial symptom of biotinidase deficiency.
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Spinal Cord Diseases
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Subacute Sclerosing Panencephalitis
Changes in cerebrospinal fluid biotinidase activity in Staphylococcus aureus meningitis.
Syringomyelia
Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism.
Tachypnea
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report.
Thyroid Cancer, Papillary
Biotinidase is a Novel Marker for Papillary Thyroid Cancer Aggressiveness.
Thyroid Neoplasms
Biotinidase is a Novel Marker for Papillary Thyroid Cancer Aggressiveness.
Secretome-Based Identification and Characterization of Potential Biomarkers in Thyroid Cancer.
Tremor
Vitamin-Responsive Movement Disorders in Children.
Tyrosinemias
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Introduction to the newborn screening fact sheets.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Newborn screening fact sheets.
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Vascular Ring
[Biotinidase deficiency and vascular ring malformation: case report].
Vasculitis
Ataxia.
very-long-chain acyl-coa dehydrogenase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Vitamin B 6 Deficiency
A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.
Vitamin E Deficiency
Vitamin-Responsive Movement Disorders in Children.
Wolman Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.