Disease on EC 6.3.4.10 - biotin-[propionyl-CoA-carboxylase (ATP-hydrolysing)] ligase

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DISEASE
TITLE OF PUBLICATION
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Acidosis
Holocarboxylase synthetase deficiency presenting as ichthyosis.
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
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.
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
acyl-coa dehydrogenase deficiency
Vitamins and inherited human errors of metabolism.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
A new case of holocarboxylase synthetase deficiency.
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Biotin dependency due to a defect in biotin transport.
Biotin holocarboxylase synthetase deficiency.
Biotin metabolism defect - A case report.
Biotinidase deficiency: An atypical presentation.
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
Characterisation of the 1H and 13C NMR spectra of methylcitric acid.
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency.
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.
Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.
Holocarboxylase synthetase deficiency pre and post newborn screening.
Holocarboxylase synthetase deficiency presenting as ichthyosis.
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy.
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.
Holocarboxylase synthetase deficiency: report of one case.
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
Late-onset holocarboxylase synthetase deficiency.
Management of a patient with holocarboxylase synthetase deficiency.
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.
Molecular genetics of biotin metabolism: old vitamin, new science.
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Psoriasis-like Dermatitis in Adulthood: A Skin Manifestation of Holocarboxylase Synthetase Deficiency.
Purification and properties of bovine liver holocarboxylase synthetase.
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency.
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
Vitamins and inherited human errors of metabolism.
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
[Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity.]
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]
[Holocarboxylase synthetase deficiency]
[Multiple carboxylase 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.
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency.
Enzyme studies in biotin-responsive disorders.
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
Late-onset holocarboxylase synthetase deficiency.
Neonatal screening for biotinidase deficiency in east-Hungary.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
[Multiple carboxylase deficiency]
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.
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.
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
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.
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.
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
A new case of holocarboxylase synthetase deficiency.
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Biotin dependency due to a defect in biotin transport.
Biotin holocarboxylase synthetase deficiency.
Biotin metabolism defect - A case report.
Biotinidase deficiency: An atypical presentation.
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
Characterisation of the 1H and 13C NMR spectra of methylcitric acid.
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency.
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.
Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.
Holocarboxylase synthetase deficiency pre and post newborn screening.
Holocarboxylase synthetase deficiency presenting as ichthyosis.
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy.
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.
Holocarboxylase synthetase deficiency: report of one case.
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
Late-onset holocarboxylase synthetase deficiency.
Management of a patient with holocarboxylase synthetase deficiency.
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.
Molecular genetics of biotin metabolism: old vitamin, new science.
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Psoriasis-like Dermatitis in Adulthood: A Skin Manifestation of Holocarboxylase Synthetase Deficiency.
Purification and properties of bovine liver holocarboxylase synthetase.
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency.
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
Vitamins and inherited human errors of metabolism.
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
[Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity.]
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency.]
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]
[Holocarboxylase synthetase deficiency]
[Multiple carboxylase 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.
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.
Homocystinuria
Vitamins and inherited human errors of metabolism.
Hypoglycemia
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Ichthyosis
Holocarboxylase synthetase deficiency presenting as ichthyosis.
Ketosis
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
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.
Lymphoma
Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: challenging the gene dosage effect hypothesis (Part I).
Maple Syrup Urine Disease
Vitamins and inherited human errors of metabolism.
Metabolic Diseases
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Positive newborn screen in the biochemically normal infant of a mother with treated 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]
Metabolism, Inborn Errors
Vitamins and inherited human errors of metabolism.
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.
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.
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Enzyme studies in biotin-responsive disorders.
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
Holocarboxylase synthetase deficiency pre and post newborn screening.
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Holocarboxylase synthetase deficiency: report of one case.
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Late-onset holocarboxylase synthetase deficiency.
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Neonatal screening for biotinidase deficiency in east-Hungary.
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients]
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.
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Enzyme studies in biotin-responsive disorders.
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
Holocarboxylase synthetase deficiency pre and post newborn screening.
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Holocarboxylase synthetase deficiency: report of one case.
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Late-onset holocarboxylase synthetase deficiency.
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Neonatal screening for biotinidase deficiency in east-Hungary.
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients]
Propionic Acidemia
Characterisation of the 1H and 13C NMR spectra of methylcitric acid.
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.
Active site conformational changes upon reaction intermediate biotinyl-5'-AMP binding in biotin protein ligase from Mycobacterium tuberculosis.
Avoiding Antibiotic Inactivation in Mycobacterium tuberculosis by Rv3406 through Strategic Nucleoside Modification.
Bisubstrate adenylation inhibitors of biotin protein ligase from Mycobacterium tuberculosis.
Bisubstrate Inhibitors of Biotin Protein Ligase in Mycobacterium tuberculosis Resistant to Cyclonucleoside Formation.
Diversity in Functional Organization of Class I and Class II Biotin Protein Ligase.
Mycobacterium smegmatis?BioQ defines a new regulatory network for biotin metabolism.
Targeting Mycobacterium tuberculosis Biotin Protein Ligase (MtBPL) with Nucleoside-Based Bisubstrate Adenylation Inhibitors.
Targeting protein biotinylation enhances tuberculosis chemotherapy.