Disease on EC 3.5.1.12 - biotinidase
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3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
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
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Acidosis, Lactic
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
Acidosis, Lactic
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
Acne Vulgaris
Elevated plasma homocysteine levels in patients on isotretinoin therapy for cystic acne.
Acrodermatitis
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.
acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
acyl-coa dehydrogenase deficiency
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
acyl-coa dehydrogenase deficiency
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Adrenal Hyperplasia, Congenital
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
Adrenal Hyperplasia, Congenital
Austrian Newborn Screening Program: a perspective of five decades.
Adrenal Hyperplasia, Congenital
Comprehensive cost-utility analysis of newborn screening strategies.
Adrenal Hyperplasia, Congenital
Current approaches to genetic metabolic screening in newborns.
Adrenal Hyperplasia, Congenital
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Adrenal Hyperplasia, Congenital
Expanded newborn screening in Greece: 30 months of experience.
Adrenal Hyperplasia, Congenital
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.
Adrenal Hyperplasia, Congenital
Newborn screening conditions: What we know, what we do not know, and how we will know it.
Adrenal Hyperplasia, Congenital
Newborn Screening: What Does the Emergency Physician Need to Know?
Adrenal Hyperplasia, Congenital
The magnitude and challenge of false-positive newborn screening test results.
Adrenal Hyperplasia, Congenital
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
Adrenal Hyperplasia, Congenital
[Model project for updating neonatal screening in Bavaria: concept and initial results]
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
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Alopecia
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Alopecia
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Alopecia
Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid.
Alopecia
The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid.
Alopecia
The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity.
Alopecia
Wide Range of Biotin (Vitamin H) Content in Foodstuffs and Powdered Milks as Assessed by High-performance Affinity Chromatography.
Alopecia
[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.
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
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
Ataxia
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Ataxia
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
Ataxia
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
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-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Biotin metabolism defect - A case report.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Late-onset holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Vitamins and inherited human errors of metabolism.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
[Multiple carboxylase deficiency]
Biotinidase Deficiency
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder.
Biotinidase Deficiency
A biotinidase Km variant causing late onset bilateral optic neuropathy.
Biotinidase Deficiency
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit.
Biotinidase Deficiency
A colorimetric assay of lipoyl-N-epsilon-lysine hydrolysis activity using 2,6-dibromoquinone-4-chlorimide.
Biotinidase Deficiency
A girl with spastic tetraparesis associated with biotinidase deficiency.
Biotinidase Deficiency
A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots.
Biotinidase Deficiency
A new quantitative analytical method of serum biotinidase activity using biocytin as a substrate and its clinical significance in Japan.
Biotinidase Deficiency
A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency.
Biotinidase Deficiency
A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.
Biotinidase Deficiency
A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals.
Biotinidase Deficiency
A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency.
Biotinidase Deficiency
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
Biotinidase Deficiency
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Biotinidase Deficiency
Abnormal Cerebrospinal Fluid Biochemistry in Biotinidase Deficiency Causing Diagnostic Conundrum.
Biotinidase Deficiency
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.
Biotinidase Deficiency
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
Biotinidase Deficiency
Adult-Onset Biotinidase Deficiency Induces Acutely Progressing Leukoencephalopathy.
Biotinidase Deficiency
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
Biotinidase Deficiency
Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase.
Biotinidase Deficiency
Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.
Biotinidase Deficiency
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.
Biotinidase Deficiency
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.
Biotinidase Deficiency
Audiologic findings in children with biotinidase deficiency in Turkey.
Biotinidase Deficiency
Autism: Screening of inborn errors of metabolism and unexpected results.
Biotinidase Deficiency
Automated generation of decision-tree models for the economic assessment of interventions for rare diseases using the RaDiOS ontology.
Biotinidase Deficiency
Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency.
Biotinidase Deficiency
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.
Biotinidase Deficiency
Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells.
Biotinidase Deficiency
Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood-brain barrier.
Biotinidase Deficiency
Biotin interference in immunoassays based on biotin-strept(avidin) chemistry: An emerging threat.
Biotinidase Deficiency
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotinidase Deficiency
Biotin responsive seizures and encephalopathy due to biotinidase deficiency.
Biotinidase Deficiency
Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion.
Biotinidase Deficiency
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency.
Biotinidase Deficiency
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
Biotinidase Deficiency
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Biotinidase Deficiency
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents.
Biotinidase Deficiency
Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.
Biotinidase Deficiency
Biotinidase deficiency associated with renal loss of biocytin and biotin.
Biotinidase Deficiency
Biotinidase deficiency associated with severe combined immunodeficiency.
Biotinidase Deficiency
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.
Biotinidase Deficiency
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
Biotinidase Deficiency
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report.
Biotinidase Deficiency
Biotinidase deficiency in Pakistani children; what needs to be known and done.
Biotinidase Deficiency
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.
Biotinidase Deficiency
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.
Biotinidase Deficiency
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Biotinidase Deficiency
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.
Biotinidase Deficiency
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Biotinidase Deficiency
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Biotinidase Deficiency
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.
Biotinidase Deficiency
Biotinidase deficiency with neurological features resembling multiple sclerosis.
Biotinidase Deficiency
Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity.
Biotinidase Deficiency
Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.
Biotinidase Deficiency
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference!
Biotinidase Deficiency
Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study.
Biotinidase Deficiency
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"
Biotinidase Deficiency
Biotinidase deficiency: a boy with angular cheilitis and blepharitis.
Biotinidase Deficiency
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.
Biotinidase Deficiency
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.
Biotinidase Deficiency
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series).
Biotinidase Deficiency
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
Biotinidase Deficiency
Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults?.
Biotinidase Deficiency
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Biotinidase Deficiency
Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism.
Biotinidase Deficiency
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Biotinidase Deficiency
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Biotinidase Deficiency
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
Biotinidase Deficiency
Biotinidase deficiency: factors responsible for the increased biotin requirement.
Biotinidase Deficiency
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Biotinidase Deficiency
Biotinidase deficiency: initial clinical features and rapid diagnosis.
Biotinidase Deficiency
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Biotinidase Deficiency
Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Biotinidase Deficiency
Biotinidase deficiency: result of treatment with biotin from age 12 years.
Biotinidase Deficiency
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Biotinidase Deficiency
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Biotinidase Deficiency
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
Biotinidase Deficiency
Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin.
Biotinidase Deficiency
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 Deficiency
Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice.
Biotinidase Deficiency
Biotinidase: its role in biotinidase deficiency and biotin metabolism.
Biotinidase Deficiency
Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency.
Biotinidase Deficiency
Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency.
Biotinidase Deficiency
Brainstem and Spinal Cord Lesions Associated with Skin Changes and Hearing Loss: Think of Biotinidase Deficiency.
Biotinidase Deficiency
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Biotinidase Deficiency
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia.
Biotinidase Deficiency
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency.
Biotinidase Deficiency
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association.
Biotinidase Deficiency
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype.
Biotinidase Deficiency
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Biotinidase Deficiency
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency.
Biotinidase Deficiency
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
Biotinidase Deficiency
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
Biotinidase Deficiency
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.
Biotinidase Deficiency
Clinical issues and frequent questions about biotinidase deficiency.
Biotinidase Deficiency
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population.
Biotinidase Deficiency
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Biotinidase Deficiency
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Biotinidase Deficiency
Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.
Biotinidase Deficiency
Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.
Biotinidase Deficiency
Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor ?1 and biotinidase deficiencies.
Biotinidase Deficiency
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
Biotinidase Deficiency
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Biotinidase Deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Biotinidase Deficiency
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
Biotinidase Deficiency
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity.
Biotinidase Deficiency
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.
Biotinidase Deficiency
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
Biotinidase Deficiency
Comprehensive cost-utility analysis of newborn screening strategies.
Biotinidase Deficiency
Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster.
Biotinidase Deficiency
Correction to: Biotinidase Deficiency Presenting as Recurrent Laryngeal Stridor.
Biotinidase Deficiency
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Biotinidase Deficiency
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].
Biotinidase Deficiency
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.
Biotinidase Deficiency
Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design.
Biotinidase Deficiency
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.
Biotinidase Deficiency
Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution.
Biotinidase Deficiency
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.
Biotinidase Deficiency
Detection of biocytin in urine of children with congenital biotinidase deficiency.
Biotinidase Deficiency
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
Biotinidase Deficiency
Deteriorating neurological and neuroradiological course in treated biotinidase deficiency.
Biotinidase Deficiency
Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column.
Biotinidase Deficiency
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Biotinidase Deficiency
Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening.
Biotinidase Deficiency
Developmental window of sensorineural deafness in biotinidase-deficient mice.
Biotinidase Deficiency
Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon.
Biotinidase Deficiency
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.
Biotinidase Deficiency
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
Biotinidase Deficiency
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan.
Biotinidase Deficiency
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.
Biotinidase Deficiency
Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.
Biotinidase Deficiency
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.
Biotinidase Deficiency
Effects of age and biotin status on postnatal development of plasma biotinidase activity in rats.
Biotinidase Deficiency
Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male.
Biotinidase Deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Biotinidase Deficiency
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.
Biotinidase Deficiency
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Biotinidase Deficiency
Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.
Biotinidase Deficiency
Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization.
Biotinidase Deficiency
Examination of the signal peptide region of human biotinidase using a baculovirus expression system.
Biotinidase Deficiency
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Biotinidase Deficiency
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.
Biotinidase Deficiency
Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats.
Biotinidase Deficiency
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
Biotinidase Deficiency
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.
Biotinidase Deficiency
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.
Biotinidase Deficiency
Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.
Biotinidase Deficiency
Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
Biotinidase Deficiency
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.
Biotinidase Deficiency
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency.
Biotinidase Deficiency
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.
Biotinidase Deficiency
Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
Biotinidase Deficiency
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
Biotinidase Deficiency
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.
Biotinidase Deficiency
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
Biotinidase Deficiency
High frequency of biotinidase deficiency in Italian population identified by newborn screening.
Biotinidase Deficiency
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.
Biotinidase Deficiency
High incidence of partial biotinidase deficiency cases in newborns of Greek origin.
Biotinidase Deficiency
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.
Biotinidase Deficiency
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Biotinidase Deficiency
Human serum biotinidase. cDNA cloning, sequence, and characterization.
Biotinidase Deficiency
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
Biotinidase Deficiency
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.
Biotinidase Deficiency
Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals.
Biotinidase Deficiency
Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency.
Biotinidase Deficiency
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Biotinidase Deficiency
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
Biotinidase Deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Biotinidase Deficiency
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Biotinidase Deficiency
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
Biotinidase Deficiency
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Biotinidase Deficiency
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.
Biotinidase Deficiency
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.
Biotinidase Deficiency
Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.
Biotinidase Deficiency
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Biotinidase Deficiency
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.
Biotinidase Deficiency
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
Biotinidase Deficiency
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
Biotinidase Deficiency
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum.
Biotinidase Deficiency
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.
Biotinidase Deficiency
Long-term auditory and visual complications of biotinidase deficiency.
Biotinidase Deficiency
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Biotinidase Deficiency
Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results.
Biotinidase Deficiency
Low serum biotinidase activity in children with valproic acid monotherapy.
Biotinidase Deficiency
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
Biotinidase Deficiency
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.
Biotinidase Deficiency
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.
Biotinidase Deficiency
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
Biotinidase Deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Biotinidase Deficiency
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Biotinidase Deficiency
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.
Biotinidase Deficiency
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
Biotinidase Deficiency
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.
Biotinidase Deficiency
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
Biotinidase Deficiency
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
Biotinidase Deficiency
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
Biotinidase Deficiency
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
Biotinidase Deficiency
Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism.
Biotinidase Deficiency
Mutations in BTD gene causing biotinidase deficiency: a regional report.
Biotinidase Deficiency
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
Biotinidase Deficiency
Na(+)-dependent biotin transport into brush-border membrane vesicles from rat kidney.
Biotinidase Deficiency
Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.
Biotinidase Deficiency
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.
Biotinidase Deficiency
Neonatal screening for biotinidase deficiency in north eastern Italy.
Biotinidase Deficiency
Neonatal screening for biotinidase deficiency. A pilot study in Scotland.
Biotinidase Deficiency
Neonatal screening for biotinidase deficiency: A 30-year single center experience.
Biotinidase Deficiency
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study.
Biotinidase Deficiency
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Biotinidase Deficiency
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.
Biotinidase Deficiency
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Biotinidase Deficiency
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Biotinidase Deficiency
Newborn screening conditions: What we know, what we do not know, and how we will know it.
Biotinidase Deficiency
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.
Biotinidase Deficiency
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Biotinidase Deficiency
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
Biotinidase Deficiency
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency.
Biotinidase Deficiency
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.
Biotinidase Deficiency
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder.
Biotinidase Deficiency
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Biotinidase Deficiency
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.
Biotinidase Deficiency
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.
Biotinidase Deficiency
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
Biotinidase Deficiency
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
Biotinidase Deficiency
Optic neuritis in a child with biotinidase deficiency: case report and literature review.
Biotinidase Deficiency
Optic neuropathy due to biotinidase deficiency in a 19-year-old man.
Biotinidase Deficiency
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.
Biotinidase Deficiency
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.
Biotinidase Deficiency
Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.
Biotinidase Deficiency
Partial biotinidase deficiency associated with Coffin-Siris syndrome.
Biotinidase Deficiency
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Biotinidase Deficiency
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Biotinidase Deficiency
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn.
Biotinidase Deficiency
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency.
Biotinidase Deficiency
Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism.
Biotinidase Deficiency
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.
Biotinidase Deficiency
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.
Biotinidase Deficiency
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Biotinidase Deficiency
Profound biotinidase deficiency: a rare disease among native Swedes.
Biotinidase Deficiency
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.
Biotinidase Deficiency
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns.
Biotinidase Deficiency
Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples.
Biotinidase Deficiency
Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC).
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.
Biotinidase Deficiency
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.
Biotinidase Deficiency
Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.
Biotinidase Deficiency
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis?
Biotinidase Deficiency
Requirement of high biotin doses in a case of biotinidase deficiency.
Biotinidase Deficiency
Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
Biotinidase Deficiency
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
Biotinidase Deficiency
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
Biotinidase Deficiency
Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities.
Biotinidase Deficiency
Screening for biotinidase deficiency in newborns: worldwide experience.
Biotinidase Deficiency
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Biotinidase Deficiency
Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid.
Biotinidase Deficiency
Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays.
Biotinidase Deficiency
Seventeen novel mutations that cause profound biotinidase deficiency.
Biotinidase Deficiency
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Biotinidase Deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Biotinidase Deficiency
Sickle-cell disease not identified by newborn screening because of prior transfusion.
Biotinidase Deficiency
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Biotinidase Deficiency
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients.
Biotinidase Deficiency
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Biotinidase Deficiency
Statistical approaches for the detection of heterozygotes for biotinidase deficiency.
Biotinidase Deficiency
Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature.
Biotinidase Deficiency
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
Biotinidase Deficiency
Successful pregnancy in a treated patient with biotinidase deficiency.
Biotinidase Deficiency
Technical standards and guidelines for the diagnosis of biotinidase deficiency.
Biotinidase Deficiency
The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid.
Biotinidase Deficiency
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Biotinidase Deficiency
The influence of valproic acid treatment on hair and serum zinc levels and serum biotinidase activity.
Biotinidase Deficiency
The magnitude and challenge of false-positive newborn screening test results.
Biotinidase Deficiency
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
Biotinidase Deficiency
The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family.
Biotinidase Deficiency
The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals.
Biotinidase Deficiency
Three dimensional structure of human biotinidase: computer modeling and functional correlations.
Biotinidase Deficiency
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
Biotinidase Deficiency
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.
Biotinidase Deficiency
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
Biotinidase Deficiency
Two unusual clinical and radiological presentations of biotinidase deficiency.
Biotinidase Deficiency
VACTERL association: a new case with biotinidase deficiency and annular pancreas.
Biotinidase Deficiency
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Biotinidase Deficiency
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
Biotinidase Deficiency
[Biotinidase deficiency (late-onset multiple carboxylase deficiency)]
Biotinidase Deficiency
[Biotinidase deficiency and vascular ring malformation: case report].
Biotinidase Deficiency
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Biotinidase Deficiency
[Biotinidase deficiency. Its form of presentation and response to treatment]
Biotinidase Deficiency
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
Biotinidase Deficiency
[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]
Biotinidase Deficiency
[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H]
Biotinidase Deficiency
[Biotinidase deficiency: disease with mainly neurocutaneous manifestations responding to biotin]
Biotinidase Deficiency
[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment]
Biotinidase Deficiency
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
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.]
Biotinidase Deficiency
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Biotinidase Deficiency
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients]
Biotinidase Deficiency
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]
Biotinidase Deficiency
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
Biotinidase Deficiency
[Model project for updating neonatal screening in Bavaria: concept and initial results]
Biotinidase Deficiency
[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]
Biotinidase Deficiency
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]
Biotinidase Deficiency
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]
Biotinidase Deficiency
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
Biotinidase Deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Biotinidase Deficiency
[The criteria of early detection of biotinidase deficiency-based epilepsy].
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]
Biotinidase Deficiency
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]
Biotinidase Deficiency
[West's syndrome. Analysis, aetiological factors and therapeutic options]
Brain Diseases
Biotin responsive seizures and encephalopathy due to biotinidase deficiency.
Brain Diseases
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Brain Diseases
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
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.
Candidiasis
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency.
Carcinoma, Hepatocellular
Effect of fucoidan on the biotinidase kinetics in human hepatocellular carcinoma.
Citrullinemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Citrullinemia
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Citrullinemia
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
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.
Congenital Hypothyroidism
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Congenital Hypothyroidism
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Congenital Hypothyroidism
Comprehensive cost-utility analysis of newborn screening strategies.
Congenital Hypothyroidism
Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution.
Congenital Hypothyroidism
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Congenital Hypothyroidism
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.
Congenital Hypothyroidism
Newborn screening conditions: What we know, what we do not know, and how we will know it.
Congenital Hypothyroidism
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
Congenital Hypothyroidism
Newborn Screening: What Does the Emergency Physician Need to Know?
Congenital Hypothyroidism
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates.
Congenital Hypothyroidism
The magnitude and challenge of false-positive newborn screening test results.
Congenital Hypothyroidism
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
Congenital Hypothyroidism
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]
Congenital Hypothyroidism
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood-brain barrier.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Expanded newborn screening in Greece: 30 months of experience.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Conjunctivitis
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Conjunctivitis
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Cystic Fibrosis
A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.
Cystic Fibrosis
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cystic Fibrosis
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Cystic Fibrosis
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
Cystic Fibrosis
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]
Cystic Fibrosis
[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]
Cystic Fibrosis
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]
Cysts
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency.
Deafness
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
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.
Demyelinating Diseases
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients.
Dermatitis
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.
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.
Epilepsies, Myoclonic
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.
Epilepsies, Myoclonic
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
Epilepsy
Abnormal Cerebrospinal Fluid Biochemistry in Biotinidase Deficiency Causing Diagnostic Conundrum.
Epilepsy
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.
Exanthema
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
Exanthema
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Exanthema
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
Exanthema
[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.
Galactosemias
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Galactosemias
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.
Galactosemias
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
Galactosemias
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Galactosemias
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Galactosemias
Sickle-cell disease not identified by newborn screening because of prior transfusion.
Galactosemias
The magnitude and challenge of false-positive newborn screening test results.
Galactosemias
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
Galactosemias
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
Galactosemias
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
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.
Genetic Diseases, Inborn
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
glucose-6-phosphate dehydrogenase (nadp+) deficiency
Neonatal biochemical screening for disease.
Glucosephosphate Dehydrogenase Deficiency
Autism: Screening of inborn errors of metabolism and unexpected results.
Glycogen Storage Disease
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.
Glycogen Storage Disease
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Glycogen Storage Disease
Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation.
Glycogen Storage Disease
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
Glycogen Storage Disease
Serum biotinidase activity in children with chronic liver disease and its clinical significance.
Hearing Loss
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Hearing Loss
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
Hearing Loss
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Hearing Loss
Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice.
Hearing Loss
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Hearing Loss
Effect of perinatal biotin deficiency on auditory pathway of the Wistar-Albino rats.
Hearing Loss
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hearing Loss
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
Hearing Loss
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.
Hearing Loss
[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.
Hearing Loss, Sensorineural
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Hearing Loss, Sensorineural
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
Hearing Loss, Sensorineural
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.
Hepatitis
Effect of fucoidan on the biotinidase kinetics in human hepatocellular carcinoma.
Hepatitis
Serum biotinidase activity in children with chronic liver disease and its clinical significance.
Hepatitis
[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.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Holocarboxylase Synthetase Deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Holocarboxylase Synthetase Deficiency
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
Holocarboxylase Synthetase Deficiency
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency.]
Holocarboxylase Synthetase Deficiency
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
homocitrate synthase deficiency
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
homocitrate synthase deficiency
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
homocitrate synthase deficiency
[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency]
Homocystinuria
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Homocystinuria
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Homocystinuria
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Homocystinuria
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
Homocystinuria
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
hydroxymethylglutaryl-coa lyase deficiency
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
hydroxymethylglutaryl-coa lyase deficiency
[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.
Hyperargininemia
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.
Hypoglycemia
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Hypothyroidism
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
Hypothyroidism
[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.
Infections
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.
Intellectual Disability
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
Intellectual Disability
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
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.
Leigh Disease
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.
Leigh Disease
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Leigh 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.
Lethargy
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.
Leukoencephalopathies
[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
Decrease in plasma biotinidase activity with normal albumin concentrations in experimental liver fibrosis.
Liver Cirrhosis
Effect of fucoidan on the biotinidase kinetics in human hepatocellular carcinoma.
Liver Cirrhosis
Increased plasma biotinidase activity in rats with paracetamol-induced acute liver injury.
Liver Diseases
Serum biotinidase activity in children with chronic liver disease and its clinical significance.
Liver Diseases
Serum biotinidase is a sensitive and specific biochemical marker of hepatic dysfunction: A preliminary report.
Liver Diseases
[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-chain acyl-coa dehydrogenase deficiency
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
Comprehensive cost-utility analysis of newborn screening strategies.
Maple Syrup Urine Disease
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Maple Syrup Urine Disease
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Maple Syrup Urine Disease
Newborn screening compared to clinical identification of biochemical genetic disorders.
Maple Syrup Urine Disease
Newborn Screening: What Does the Emergency Physician Need to Know?
Maple Syrup Urine Disease
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
Maple Syrup Urine Disease
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Maple Syrup Urine Disease
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Maple Syrup Urine Disease
[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.
medium-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
medium-chain acyl-coa dehydrogenase deficiency
Expanded newborn screening in Greece: 30 months of experience.
medium-chain acyl-coa dehydrogenase deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
medium-chain acyl-coa dehydrogenase deficiency
Introduction to the newborn screening fact sheets.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal screening in Europe; the situation in 2004.
medium-chain acyl-coa dehydrogenase deficiency
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
medium-chain acyl-coa dehydrogenase deficiency
[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.
Metabolic Diseases
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"
Metabolic Diseases
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Metabolic Diseases
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
Metabolic Diseases
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.
Metabolic Diseases
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Metabolic Diseases
Newborn screening compared to clinical identification of biochemical genetic disorders.
Metabolic Diseases
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates.
Metabolic Diseases
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Metabolic Diseases
[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H]
Metabolic Diseases
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease.]
Metabolic Diseases
[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
Neonatal screening for biotinidase deficiency in north eastern Italy.
Metabolism, Inborn Errors
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Metabolism, Inborn Errors
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder.
Metabolism, Inborn Errors
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Metabolism, Inborn Errors
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Metabolism, Inborn Errors
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience.]
Metabolism, Inborn Errors
[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.
methylcrotonoyl-coa carboxylase deficiency
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
methylcrotonoyl-coa carboxylase deficiency
[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).
Mitochondrial Diseases
Autism: Screening of inborn errors of metabolism and unexpected results.
Mitochondrial Diseases
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
Motor Neuron Disease
A biotinidase Km variant causing late onset bilateral optic neuropathy.
Mucopolysaccharidoses
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Mucopolysaccharidoses
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).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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.
Multiple Carboxylase Deficiency
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Multiple Carboxylase Deficiency
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
Multiple Carboxylase Deficiency
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Multiple Carboxylase Deficiency
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Multiple Carboxylase Deficiency
Deficient liver biotinidase activity in multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Multiple Carboxylase Deficiency
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Multiple Carboxylase Deficiency
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency due to deficiency of biotinidase.
Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Multiple Carboxylase Deficiency
Neonatal screening for biotinidase deficiency in east-Hungary.
Multiple Carboxylase Deficiency
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Multiple Carboxylase Deficiency
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
Multiple Carboxylase Deficiency
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
Multiple Carboxylase Deficiency
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Multiple Carboxylase Deficiency
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Multiple Carboxylase Deficiency
[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.
Multiple Sclerosis
Biotin interference in immunoassays based on biotin-strept(avidin) chemistry: An emerging threat.
Multiple Sclerosis
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.
Multiple Sclerosis
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.
Muscle Hypotonia
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.
Muscle Hypotonia
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Muscle Hypotonia
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Muscle Hypotonia
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Muscle Hypotonia
Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism.
Muscle Hypotonia
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Muscle Hypotonia
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Muscle Hypotonia
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
Muscle Spasticity
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Muscular Diseases
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
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
Biotin reagents for antibody pretargeting. Synthesis, radioiodination, and in vitro evaluation of water soluble, biotinidase resistant biotin derivatives.
Neoplasms
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.
Neoplasms
Identification of a gene-expression signature for predicting lymph node metastasis in patients with early stage cervical carcinoma.
Neoplasms
Lipoamidase activity in virus induced tumours and in the corresponding normal tissue.
Neoplasms
Repression of Biotin-Related Proteins by Benzo[a]Pyrene-Induced Epigenetic Modifications in Human Bronchial Epithelial Cells.
Neoplasms
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Nervous System Diseases
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
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.
Neurocutaneous Syndromes
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"
Neurocutaneous Syndromes
Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Neurocutaneous Syndromes
Clinical issues and frequent questions about biotinidase deficiency.
Neurocutaneous Syndromes
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Neurocutaneous Syndromes
Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon.
Neurocutaneous Syndromes
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.
Neurologic Manifestations
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Neurologic Manifestations
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.
Neurologic Manifestations
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Neurologic Manifestations
Cutaneous and neurologic manifestations of biotinidase deficiency.
Neurologic Manifestations
Neurologic symptoms of biotinidase deficiency: possible explanation.
Neurologic Manifestations
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Neurologic Manifestations
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.
Neuromyelitis Optica
Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.
Neuromyelitis Optica
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
Neuromyelitis Optica
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.
Neuromyelitis Optica
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Neuromyelitis Optica
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
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
Optic Atrophy
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
Optic Atrophy
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Optic Atrophy
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Optic Atrophy
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Optic Atrophy
Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.
Optic Atrophy
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
Optic Atrophy
Optic neuritis in a child with biotinidase deficiency: case report and literature review.
Optic Atrophy
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.
Optic Nerve Diseases
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
Optic Nerve Diseases
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.
Optic Nerve Diseases
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Optic Nerve Diseases
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.
Optic Neuritis
Optic neuritis in a child with biotinidase deficiency: case report and literature review.
ornithine carbamoyltransferase deficiency
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]
Ornithine Carbamoyltransferase Deficiency Disease
[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.
pantoate-beta-alanine ligase (amp-forming) deficiency
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
Paraparesis, Spastic
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
Paraparesis, Spastic
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
Paraparesis, Spastic
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
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.
peptidyl-glutamate 4-carboxylase deficiency
A qualitative assessment of biotinidase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase activity in patients with liver disease.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency: a novel vitamin recycling defect.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency: initial clinical features and rapid diagnosis.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
peptidyl-glutamate 4-carboxylase deficiency
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Deficient liver biotinidase activity in multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
peptidyl-glutamate 4-carboxylase deficiency
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
peptidyl-glutamate 4-carboxylase deficiency
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Late-onset holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency due to deficiency of biotinidase.
peptidyl-glutamate 4-carboxylase deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
peptidyl-glutamate 4-carboxylase deficiency
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
peptidyl-glutamate 4-carboxylase deficiency
Neonatal screening for biotinidase deficiency in east-Hungary.
peptidyl-glutamate 4-carboxylase deficiency
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
peptidyl-glutamate 4-carboxylase deficiency
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
peptidyl-glutamate 4-carboxylase deficiency
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
peptidyl-glutamate 4-carboxylase deficiency
Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.
peptidyl-glutamate 4-carboxylase deficiency
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
peptidyl-glutamate 4-carboxylase deficiency
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
peptidyl-glutamate 4-carboxylase deficiency
The management and long term outcome of organic acidaemias.
peptidyl-glutamate 4-carboxylase deficiency
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
peptidyl-glutamate 4-carboxylase deficiency
[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
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
Phenylketonurias
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Phenylketonurias
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.
Phenylketonurias
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.
Phenylketonurias
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Phenylketonurias
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Phenylketonurias
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Phenylketonurias
Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.
Phenylketonurias
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Phenylketonurias
The magnitude and challenge of false-positive newborn screening test results.
Phenylketonurias
The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals.
Phenylketonurias
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University]
Phenylketonurias
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]
Phenylketonurias
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]
Phenylketonurias
[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.
Propionic Acidemia
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]
pyruvate dehydrogenase (nadp+) deficiency
Vitamin-Responsive Movement Disorders in Children.
Pyruvate Dehydrogenase Complex Deficiency Disease
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.
Seizures
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.
Seizures
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Seizures
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Seizures
Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.
Seizures
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Seizures
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Seizures
Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature.
Seizures
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Seizures
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease.]
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
Wide Range of Biotin (Vitamin H) Content in Foodstuffs and Powdered Milks as Assessed by High-performance Affinity Chromatography.
Spasms, Infantile
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.
Spinal Cord Diseases
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Spinal Cord Diseases
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Spinal Cord Diseases
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Spinal Cord Diseases
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
Spinal Cord Diseases
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
Spinal Cord Diseases
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.
Thyroid Neoplasms
Secretome-Based Identification and Characterization of Potential Biomarkers in Thyroid Cancer.
Tyrosinemias
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Tyrosinemias
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Tyrosinemias
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
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.
Wolman Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
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