Disease: Holocarboxylase synthetase deficiency
- A 2-month-old boy with desquamative skin fold dermatitis
- A 96-well plate assay for high-throughput analysis of holocarboxylase synthetase activity
- A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy
- A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency
- A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency
- A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency
- Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong
- 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 and biotinidase deficiency
- Biotin availability regulates expression of the sodium-dependent multivitamin transporter and the rate of biotin uptake in HepG2 cells
- Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood
- Biotin dependency due to a defect in biotin transport
- Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives
- Biotin in metabolism, gene expression, and human disease
- Biotin metabolism defect - A case report
- Biotin regulates the genetic expression of holocarboxylase synthetase and mitochondrial carboxylases in rats
- Biotin requirements for DNA damage prevention
- Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis
- Biotin-dependent regulation of gene expression in human cells
- Biotinidase deficiency: an atypical presentation
- Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands
- Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients
- 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
- Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
- Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report
- Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings
- Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity
- Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency
- Differential growth inhibition, cell cycle arrest and apoptosis of MCF-7 and MDA-MB-231 cells to holocarboxylase synthetase suppression
- Drosophila melanogaster holocarboxylase synthetase is a chromosomal protein required for normal histone biotinylation, gene transcription patterns, lifespan, and heat tolerance
- Effects of Biotin Deficiency on Biotinylated Proteins and Biotin-Related Genes in the Rat Brain
- Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis
- Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency
- Epigenetic regulation of chromatin structure and gene function by biotin
- Epigenetic regulation of chromatin structure and gene function by biotin: are biotin requirements being met?
- Epigenetic synergies between biotin and folate in the regulation of pro-inflammatory cytokines and repeats
- Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency
- First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency
- From an inborn error patient to a search for regulatory meaning: a biotin conducted voyage
- Gene mutation analyses in Chinese children with multiple carboxylase deficiency
- Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency
- Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
- 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
- Holocarboxylase synthetase deficiency induced by <em>HLCS</em> gene mutations: a rare disease study
- Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study
- Holocarboxylase synthetase deficiency pre and post newborn screening
- Holocarboxylase synthetase deficiency presenting as ichthyosis
- Holocarboxylase synthetase deficiency: novel clinical and molecular findings
- Holocarboxylase synthetase deficiency: report of one case
- Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis
- 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 knockout is embryonic lethal in mice
- Holocarboxylase synthetase regulates expression of biotin transporters by chromatin remodeling events at the SMVT locus
- Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization
- Identification and assessment of markers of biotin status in healthy adults
- Image Gallery: Rapidly spontaneous onset of erythroderma in a neonate
- Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency
- Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review
- Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review
- Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis
- K16-biotinylated histone H4 is overrepresented in repeat regions and participates in the repression of transcriptionally competent genes in human Jurkat lymphoid cells
- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)
- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)
- Management of a patient with holocarboxylase synthetase deficiency
- Marginal biotin deficiency is teratogenic in mice and perhaps humans: a review of biotin deficiency during human pregnancy and effects of biotin deficiency on gene expression and enzyme activities in mouse dam and fetus
- Marginal maternal biotin deficiency in CD-1 mice reduces fetal mass of biotin-dependent carboxylases
- Metabolic approach in epileptic encephalopathies in infants
- Metabolic disease in the Pacific: Lessons for indigenous populations
- Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency
- Molecular genetics of biotin metabolism: old vitamin, new science
- Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures
- Mutations in the holocarboxylase synthetase gene HLCS
- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency
- Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase 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
- Psoriasis-like Dermatitis in Adulthood: A Skin Manifestation of Holocarboxylase Synthetase Deficiency
- 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
- Regulation of immunological and inflammatory functions by biotin
- Revisiting the administration of biotin to children with biotin-responsive disorders
- Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up
- 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
- Substrate recognition characteristics of human holocarboxylase synthetase for biotin ligation
- Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency
- Successful treatment with secukinumab of psoriasis-like dermatitis in a patient with holocarboxylase synthetase 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
- The advisory report 'Neonatal screening' from the Health Council of The Netherlands
- The biotin-ligating protein BPL-1 is critical for lipid biosynthesis and polarization of the <em>Caenorhabditis elegans</em> embryo
- The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient
- The role of holocarboxylase synthetase in genome stability is mediated partly by epigenomic synergies between methylation and biotinylation events
- 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
- Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E
- What syndrome is this? Infantile periorificial and intertriginous dermatitis preceding sepsis-like respiratory failure