Disease on EC 6.3.4.10 - biotin-[propionyl-CoA-carboxylase (ATP-hydrolysing)] ligase
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Acidosis
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.
Acidosis
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Acidosis
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
Acidosis, Lactic
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Acidosis, Lactic
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
A new case of holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.
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 dependency due to a defect in biotin transport.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Biotin holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Biotin metabolism defect - A case report.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Biotinidase deficiency: An atypical presentation.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Characterisation of the 1H and 13C NMR spectra of methylcitric acid.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency presenting as ichthyosis.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency: report of one case.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Late-onset holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Management of a patient with holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Molecular genetics of biotin metabolism: old vitamin, new science.
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
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Psoriasis-like Dermatitis in Adulthood: A Skin Manifestation of Holocarboxylase Synthetase Deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Purification and properties of bovine liver holocarboxylase synthetase.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
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
[Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity.]
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
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
[Holocarboxylase synthetase deficiency]
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
[Multiple carboxylase deficiency]
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]
Biotinidase Deficiency
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotinidase Deficiency
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of 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
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Biotinidase Deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Biotinidase Deficiency
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Biotinidase Deficiency
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
Biotinidase Deficiency
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
Breast Neoplasms
Overexpression of Holocarboxylase Synthetase Predicts Lymph Node Metastasis and Unfavorable Prognosis in Breast Cancer.
Cerebral Palsy
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy.
Congenital Disorders of Glycosylation
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Cystinosis
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Cysts
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.
Cysts
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
Dehydration
Structural ordering of disordered ligand-binding loops of biotin protein ligase into active conformations as a consequence of dehydration.
Dermatitis
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
Dermatitis
Psoriasis-like Dermatitis in Adulthood: A Skin Manifestation of Holocarboxylase Synthetase Deficiency.
Down Syndrome
Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22.
Fetal Growth Retardation
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.
Genetic Diseases, Inborn
Molecular genetics of biotin metabolism: old vitamin, new science.
Glycogen Storage Disease
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]
Glycogen Storage Disease Type III
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]
Hemochromatosis
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Holocarboxylase Synthetase Deficiency
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.
Holocarboxylase Synthetase Deficiency
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.
Holocarboxylase Synthetase Deficiency
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.
Holocarboxylase Synthetase Deficiency
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.
Holocarboxylase Synthetase Deficiency
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Holocarboxylase Synthetase Deficiency
Biotin dependency due to a defect in biotin transport.
Holocarboxylase Synthetase Deficiency
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
Holocarboxylase Synthetase Deficiency
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
Holocarboxylase Synthetase Deficiency
Characterisation of the 1H and 13C NMR spectra of methylcitric acid.
Holocarboxylase Synthetase Deficiency
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.
Holocarboxylase Synthetase Deficiency
Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.
Holocarboxylase Synthetase Deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Holocarboxylase Synthetase Deficiency
Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.
Holocarboxylase Synthetase Deficiency
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.
Holocarboxylase Synthetase Deficiency
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency presenting as ichthyosis.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency: report of one case.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.
Holocarboxylase Synthetase Deficiency
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review.
Holocarboxylase Synthetase Deficiency
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Holocarboxylase Synthetase Deficiency
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Holocarboxylase Synthetase Deficiency
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
Holocarboxylase Synthetase Deficiency
Management of a patient with holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.
Holocarboxylase Synthetase Deficiency
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Molecular genetics of biotin metabolism: old vitamin, new science.
Holocarboxylase Synthetase Deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Holocarboxylase Synthetase Deficiency
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Holocarboxylase Synthetase Deficiency
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
Holocarboxylase Synthetase Deficiency
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Holocarboxylase Synthetase Deficiency
Psoriasis-like Dermatitis in Adulthood: A Skin Manifestation of Holocarboxylase Synthetase Deficiency.
Holocarboxylase Synthetase Deficiency
Purification and properties of bovine liver holocarboxylase synthetase.
Holocarboxylase Synthetase Deficiency
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
Holocarboxylase Synthetase Deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Holocarboxylase Synthetase Deficiency
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
Holocarboxylase Synthetase Deficiency
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
Holocarboxylase Synthetase Deficiency
[Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity.]
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]
Holocarboxylase Synthetase Deficiency
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]
Holocarboxylase Synthetase Deficiency
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]
homocitrate synthase deficiency
Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.
homocitrate synthase deficiency
Susceptibility to heat stress and aberrant gene expression patterns in holocarboxylase synthetase-deficient Drosophila melanogaster are caused by decreased biotinylation of histones, not of carboxylases.
Hypoglycemia
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Ketosis
Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.
Ketosis
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.
Ketosis
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.
Ketosis
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
Ketosis
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Ketosis
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Latent Infection
Genetic models of latent tuberculosis in mice reveal differential influence of adaptive immunity.
long-chain acyl-coa dehydrogenase deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Lymphatic Metastasis
Overexpression of Holocarboxylase Synthetase Predicts Lymph Node Metastasis and Unfavorable Prognosis in Breast Cancer.
Lymphoma
Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: challenging the gene dosage effect hypothesis (Part I).
Metabolic Diseases
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Metabolic Diseases
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
Metabolic Diseases
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
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
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Multiple Carboxylase Deficiency
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Multiple Carboxylase Deficiency
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Multiple Carboxylase Deficiency
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
Multiple Carboxylase Deficiency
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
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
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.
Multiple Carboxylase Deficiency
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
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
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Neonatal screening for biotinidase deficiency in east-Hungary.
Multiple Carboxylase Deficiency
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Multiple Carboxylase Deficiency
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
Multiple Carboxylase Deficiency
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Multiple Carboxylase Deficiency
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
Multiple Carboxylase Deficiency
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients]
Neoplasm Metastasis
Overexpression of Holocarboxylase Synthetase Predicts Lymph Node Metastasis and Unfavorable Prognosis in Breast Cancer.
Neoplasm Metastasis
Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: challenging the gene dosage effect hypothesis (Part I).
Neoplasms
Repression of Biotin-Related Proteins by Benzo[a]Pyrene-Induced Epigenetic Modifications in Human Bronchial Epithelial Cells.
pantoate-beta-alanine ligase (amp-forming) deficiency
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]
peptidyl-glutamate 4-carboxylase deficiency
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
peptidyl-glutamate 4-carboxylase deficiency
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
peptidyl-glutamate 4-carboxylase deficiency
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
peptidyl-glutamate 4-carboxylase deficiency
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency: report of one case.
peptidyl-glutamate 4-carboxylase deficiency
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.
peptidyl-glutamate 4-carboxylase deficiency
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
peptidyl-glutamate 4-carboxylase deficiency
Late-onset holocarboxylase synthetase deficiency.
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
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Neonatal screening for biotinidase deficiency in east-Hungary.
peptidyl-glutamate 4-carboxylase deficiency
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
peptidyl-glutamate 4-carboxylase deficiency
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
peptidyl-glutamate 4-carboxylase deficiency
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
peptidyl-glutamate 4-carboxylase deficiency
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
peptidyl-glutamate 4-carboxylase deficiency
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients]
Propionic Acidemia
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Tachypnea
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
Tuberculosis
A green fluorescent protein-based assay for high-throughput ligand-binding studies of a mycobacterial biotin protein ligase.
Tuberculosis
Active site conformational changes upon reaction intermediate biotinyl-5'-AMP binding in biotin protein ligase from Mycobacterium tuberculosis.
Tuberculosis
Avoiding Antibiotic Inactivation in Mycobacterium tuberculosis by Rv3406 through Strategic Nucleoside Modification.
Tuberculosis
Bisubstrate adenylation inhibitors of biotin protein ligase from Mycobacterium tuberculosis.
Tuberculosis
Bisubstrate Inhibitors of Biotin Protein Ligase in Mycobacterium tuberculosis Resistant to Cyclonucleoside Formation.
Tuberculosis
Diversity in Functional Organization of Class I and Class II Biotin Protein Ligase.
Tuberculosis
Mycobacterium smegmatis?BioQ defines a new regulatory network for biotin metabolism.
Tuberculosis
Targeting Mycobacterium tuberculosis Biotin Protein Ligase (MtBPL) with Nucleoside-Based Bisubstrate Adenylation Inhibitors.
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