Disease: Multiple carboxylase deficiency- biotin responsive
- A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy
- A qualitative assessment of biotinidase deficiency
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis
- A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency
- Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts
- Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency
- Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency
- Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder
- Bioavailability of biotin given orally to humans in pharmacologic doses
- Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group
- Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency
- Biotin and biotinidase deficiency
- Biotin deficiency enhances the inflammatory response of human dendritic cells
- Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood
- Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives
- Biotin in metabolism and its relationship to human disease
- Biotin in metabolism, gene expression, and human disease
- Biotin protein ligase as you like it: Either extraordinarily specific or promiscuous protein biotinylation
- Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis
- Biotin responsive seizures and encephalopathy due to biotinidase deficiency
- Biotin transport in the rat central nervous system
- Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency
- Biotin-responsive multiple carboxylase deficiency
- Biotin-responsive Multiple Carboxylase Deficiency (MCD)
- Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin
- Biotin-responsive multiple carboxylase deficiency and immunodeficiency
- Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities
- Biotin-responsive multiple carboxylase deficiency of infantile onset
- Biotinidase deficiency and our champagne legacy
- Biotinidase deficiency in childhood
- Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss
- Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders
- Biotinidase deficiency with hypertonia as unusual feature
- Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin
- Biotinidase deficiency. Its form of presentation and response to treatment
- Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency
- Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency
- Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency
- Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies
- Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency
- Clinical issues and frequent questions about biotinidase deficiency
- Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients
- Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
- Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency
- Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder
- Developmental window of sensorineural deafness in biotinidase-deficient mice
- Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon
- Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency
- Drosophila melanogaster holocarboxylase synthetase is a chromosomal protein required for normal histone biotinylation, gene transcription patterns, lifespan, and heat tolerance
- Enzyme studies in biotin-responsive disorders
- Epigenetic regulation of chromatin structure and gene function by biotin
- 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
- Fetal drug therapy
- Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro
- Forty-eight novel mutations causing biotinidase deficiency
- Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency
- High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders
- Holocarboxylase synthetase deficiency: report of one case
- Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells
- Holocarboxylase synthetase regulates expression of biotin transporters by chromatin remodeling events at the SMVT locus
- 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 with homologous R508W mutation
- Lipid metabolism in biotin-responsive multiple carboxylase deficiency
- Long-term auditory and visual complications of biotinidase deficiency
- Magnetic resonance imaging in lactic acidosis
- Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency
- Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism
- Molecular genetics of biotin metabolism: old vitamin, new science
- Molecular Mechanisms of Biotin in Modulating Inflammatory Diseases
- Multiple carboxylase deficiency due to deficiency of biotinidase
- Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment
- Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency
- Mutations in the holocarboxylase synthetase gene HLCS
- Neonatal form of biotin-responsive multiple carboxylase deficiency
- New insight into the causes of immunodeficiency disorders
- Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency
- 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
- Phenotypic variation in biotinidase deficiency
- Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency
- Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency
- Prenatal treatment of biotin responsive multiple carboxylase deficiency
- Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts
- Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample
- Recovery from neurological deficits following biotin treatment in a biotinidase Km variant
- Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency
- 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
- Revisiting the administration of biotin to children with biotin-responsive disorders
- Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates
- Severe neonatal holocarboxylase synthetase deficiency in west african siblings
- Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism
- Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency
- The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid
- The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient
- The neonatal form of biotin-responsive multiple carboxylase deficiency
- Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E