Published in Mol Genet Metab on October 29, 2008
Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. Am J Clin Nutr (2010) 1.04
Urinary excretion of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. J Nutr (2011) 0.90
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. Pediatr Radiol (2016) 0.77
Holocarboxylase synthetase 1 physically interacts with histone h3 in Arabidopsis. Scientifica (Cairo) (2013) 0.76
Holocarboxylase synthetase deficiency pre and post newborn screening. Mol Genet Metab Rep (2016) 0.75
The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem (2007) 8.94
Nomenclature for the description of human sequence variations. Hum Genet (2001) 7.90
Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase alpha subunit expressed in Escherichia coli. J Biol Chem (1994) 1.54
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Nat Genet (1994) 1.53
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Pediatr Res (1997) 1.53
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest (1981) 1.39
Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells. Proc Natl Acad Sci U S A (2002) 1.18
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. Am J Med Genet (2002) 1.17
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Hum Genet (2001) 1.10
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn (1999) 1.02
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. Clin Biochem (2003) 1.01
Late-onset holocarboxylase synthetase deficiency. J Inherit Metab Dis (1996) 1.00
Determinations of biotin in biological fluids. Methods Enzymol (1997) 0.98
Serum concentrations of bisnorbiotin and biotin sulfoxide increase during both acute and chronic biotin supplementation. J Lab Clin Med (1997) 0.89
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency. Pediatr Res (1999) 0.88
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. J Biol Chem (2004) 0.88
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am J Hum Genet (1985) 0.87
Biotin transport through the blood-brain barrier. J Neurochem (1987) 0.87
Biotin transport and metabolism in the central nervous system. Neurochem Res (1988) 0.85
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. Eur J Pediatr (1993) 0.83
Biotin availability regulates expression of the sodium-dependent multivitamin transporter and the rate of biotin uptake in HepG2 cells. Mol Genet Metab (2005) 0.81
Biotin nutritional status of vegans, lactoovovegetarians, and nonvegetarians. Am J Clin Nutr (1989) 0.81
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. Pediatrics (1993) 0.81
Biotin transport in primary culture of astrocytes: effect of biotin deficiency. J Neurochem (1992) 0.78
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. Mol Genet Metab (2003) 0.78
Randomized trial of liberal versus restrictive guidelines for red blood cell transfusion in preterm infants. Pediatrics (2005) 4.39
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
A diet-induced mouse model for glutaric aciduria type I. Brain (2006) 2.31
Metabolomics identifies perturbations in human disorders of propionate metabolism. Clin Chem (2007) 2.31
Decreased renal organic anion secretion and plasma accumulation of endogenous organic anions in OAT1 knock-out mice. J Biol Chem (2005) 2.07
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet A (2009) 1.74
Understanding intestinal cysteamine bitartrate absorption. J Pediatr (2006) 1.57
Multiple organic anion transporters contribute to net renal excretion of uric acid. Physiol Genomics (2008) 1.53
Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol (2013) 1.49
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol (2009) 1.40
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain (2013) 1.22
Circulating RBC volume, measured with biotinylated RBCs, is superior to the Hct to document the hematologic effects of delayed versus immediate umbilical cord clamping in preterm neonates. Transfusion (2003) 1.22
Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells. Proc Natl Acad Sci U S A (2002) 1.18
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A (2005) 1.16
Organic anion transporter 3 contributes to the regulation of blood pressure. J Am Soc Nephrol (2008) 1.14
Marginal maternal biotin deficiency in CD-1 mice reduces fetal mass of biotin-dependent carboxylases. J Nutr (2005) 1.13
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging (2004) 1.12
Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion. Br J Clin Pharmacol (2007) 1.12
Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. J Nutr (2005) 1.09
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis (2010) 1.08
Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet (2002) 1.08
Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I. J Clin Invest (2007) 1.07
A randomized clinical trial comparing immediate versus delayed clamping of the umbilical cord in preterm infants: short-term clinical and laboratory endpoints. Transfusion (2008) 1.06
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab (2013) 1.05
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res (2010) 1.05
Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. Am J Clin Nutr (2010) 1.04
Influence of species specificity and other factors on bacteria associated with the coral Stylophora pistillata in Taiwan. Appl Environ Microbiol (2009) 1.03
Lymphocyte propionyl-CoA carboxylase and its activation by biotin are sensitive indicators of marginal biotin deficiency in humans. Am J Clin Nutr (2006) 1.03
Smoking accelerates biotin catabolism in women. Am J Clin Nutr (2004) 1.01
Posttransfusion 24-hour recovery and subsequent survival of allogeneic red blood cells in the bloodstream of newborn infants. Transfusion (2004) 1.01
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab (2012) 1.01
Long-term treatment of cystinosis in children with twice-daily cysteamine. J Pediatr (2010) 1.00
Microbial and viral metagenomes of a subtropical freshwater reservoir subject to climatic disturbances. ISME J (2013) 0.99
Quantitative measurement of plasma 3-hydroxyisovaleryl carnitine by LC-MS/MS as a novel biomarker of biotin status in humans. Anal Chem (2010) 0.99
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am J Med Genet A (2007) 0.98
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. Curr Opin Pediatr (2008) 0.96
FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord (2011) 0.95
Domino liver transplantation in maple syrup urine disease. Liver Transpl (2006) 0.94
Twice-daily cysteamine bitartrate therapy for children with cystinosis. J Pediatr (2010) 0.94
Quantitative measurement of urinary excretion of 3-hydroxyisovaleryl carnitine by LC-MS/MS as an indicator of biotin status in humans. Anal Chem (2010) 0.93
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene. Eur J Pediatr (2007) 0.92
Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1. Invest Ophthalmol Vis Sci (2011) 0.92
Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD. J Am Soc Nephrol (2013) 0.90
Urinary excretion of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. J Nutr (2011) 0.90
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Hum Mutat (2003) 0.90
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. Mol Genet Metab (2010) 0.89
Bacteria associated with an encrusting sponge (Terpios hoshinota) and the corals partially covered by the sponge. Environ Microbiol (2011) 0.89
Biotin dependency due to a defect in biotin transport. J Clin Invest (2002) 0.89
Posttransfusion red blood cell (RBC) survival determined using biotin-labeled RBCs has distinct advantages over labeling with (51) Cr. Transfusion (2012) 0.89
Pharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study. Br J Clin Pharmacol (2010) 0.89
Biotin uptake into human peripheral blood mononuclear cells increases early in the cell cycle, increasing carboxylase activities. J Nutr (2002) 0.88
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. J Biol Chem (2004) 0.88
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab (2008) 0.88
Role of L-carnitine in apnea of prematurity: a randomized, controlled trial. Pediatrics (2002) 0.87
Marked reduction of Na(+), K(+)-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice. Mol Genet Metab (2012) 0.87
Measurement of 3-hydroxyisovaleric acid in urine from marginally biotin-deficient humans by UPLC-MS/MS. Anal Bioanal Chem (2011) 0.87
Development of genomic reference materials for Huntington disease genetic testing. Genet Med (2007) 0.86
Questionable 16S ribosomal RNA gene annotations are frequent in completed microbial genomes. Gene (2008) 0.85
PH1: an archaeovirus of Haloarcula hispanica related to SH1 and HHIV-2. Archaea (2013) 0.85
Oculocutaneous albinism spectrum. Am J Med Genet A (2009) 0.85
Novel mutation causing Hermansky-Pudlak Syndrome Type 2. Pediatr Blood Cancer (2010) 0.85
45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? Mol Genet Metab (2011) 0.85
Fatal initial adult-onset presentation of urea cycle defect. Arch Neurol (2007) 0.85
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. Am J Med Genet A (2009) 0.84
Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab (2002) 0.83
Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice. Life Sci (2012) 0.83
A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent. Biotechnol Bioeng (2013) 0.83
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria. Mol Genet Metab (2011) 0.83
Comparison of multiple red cell volume methods performed concurrently in premature infants following allogeneic transfusion. Pediatr Res (2013) 0.83
Total plasma homocysteine and primary open-angle glaucoma. Am J Ophthalmol (2004) 0.83
Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab (2010) 0.83
Maternal glutaric acidemia, type I identified by newborn screening. Mol Genet Metab (2008) 0.82
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn (2009) 0.81
Release of biotin from biotinylated proteins occurs enzymatically and nonenzymatically in human plasma. Anal Biochem (2004) 0.81
Biotin availability regulates expression of the sodium-dependent multivitamin transporter and the rate of biotin uptake in HepG2 cells. Mol Genet Metab (2005) 0.81
Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration. Mol Genet Metab (2012) 0.81
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. J Biol Chem (2008) 0.81
Metabolic stratification driven by surface and subsurface interactions in a terrestrial mud volcano. ISME J (2012) 0.81
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. J Inherit Metab Dis (2010) 0.80
Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation. Mol Genet Metab (2012) 0.80
A Method to Evaluate Fetal Erythropoiesis from Postnatal Survival of Fetal RBCs. AAPS J (2015) 0.80
Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Mol Genet Metab (2012) 0.80
Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. Am J Med Genet A (2012) 0.80
Complete Genome Sequence of the Extremely Halophilic Archaeon Haloarcula hispanica Strain N601. Genome Announc (2014) 0.80
A new hypothesis of OCA1B. Am J Med Genet A (2008) 0.80
Biotin accounts for less than half of all biotin and biotin metabolites in the cerebrospinal fluid of children. Am J Clin Nutr (2008) 0.79
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Pediatrics (2007) 0.78
Measurement of acylcarnitine substrate to product ratios specific to biotin-dependent carboxylases offers a combination of indicators of biotin status in humans. J Nutr (2012) 0.78
A biotin-protein bond with stability in plasma. Anal Biochem (2005) 0.78
Synergistic interaction of the OCA2 and OCA3 genes in a family. Am J Med Genet A (2008) 0.78
Domino hepatic transplantation in maple syrup urine disease. N Engl J Med (2005) 0.78