Published in J Inherit Metab Dis on September 04, 2007
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The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet (2006) 3.17
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Migraine and MTHFR C677T genotype in a population-based sample. Ann Neurol (2006) 2.31
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
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Contribution of various metabolites to the "unmeasured" anions in critically ill patients with metabolic acidosis. Crit Care Med (2008) 1.99
Effect of oral vitamin B-12 with or without folic acid on cognitive function in older people with mild vitamin B-12 deficiency: a randomized, placebo-controlled trial. Am J Clin Nutr (2006) 1.91
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Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol (2005) 1.85
Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. Eur Heart J (2006) 1.84
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels. Eur J Hum Genet (2006) 1.74
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet (2004) 1.72
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Homocysteine level is associated with aortic stiffness in elderly: cross-sectional results from the B-PROOF study. J Hypertens (2013) 1.52
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients. Mol Genet Metab (2007) 1.50
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem (2006) 1.46
Homocysteine determinants and the evidence to what extent homocysteine determines the risk of coronary heart disease. Pharmacol Rev (2002) 1.45
Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate? Am J Epidemiol (2003) 1.44
Potential role for adenosine in the pathogenesis of the vascular complications of hyperhomocysteinemia. Cardiovasc Res (2003) 1.42
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
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Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function. Hum Mol Genet (2008) 1.33
A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry (2013) 1.31
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr (2006) 1.29
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem (2006) 1.29
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain (2007) 1.27
Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis (2014) 1.26
Metabolic cutis laxa syndromes. J Inherit Metab Dis (2011) 1.25
Genetic variation in genes of folate metabolism and neural-tube defect risk. Proc Nutr Soc (2006) 1.23
The homocysteine controversy. J Inherit Metab Dis (2010) 1.23
Cytosine DNA methylation is found in Drosophila melanogaster but absent in Saccharomyces cerevisiae, Schizosaccharomyces pombe, and other yeast species. Anal Chem (2014) 1.23
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet (2007) 1.20
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis (2013) 1.18
How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis (2011) 1.18
Choline and risk of neural tube defects in a folate-fortified population. Epidemiology (2009) 1.18
Effect of the methylenetetrahydrofolate reductase 677C-->T mutation on the relations among folate intake and plasma folate and homocysteine concentrations in a general population sample. Am J Clin Nutr (2003) 1.18
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 1.15
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis (2013) 1.14
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat (2008) 1.14
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet (2011) 1.14
Bleeding symptoms in carriers of hemophilia A and B. Thromb Haemost (1988) 1.14
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain (2008) 1.13
Stable-isotope dilution liquid chromatography-electrospray injection tandem mass spectrometry method for fast, selective measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasma. Clin Chem (2005) 1.11
Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC. J Mol Med (Berl) (2005) 1.10
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim Biophys Acta (2009) 1.10
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. Cell Metab (2011) 1.09
The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis (2010) 1.08
[Extensive neonatal heel injection screening for metabolic diseases in the Netherlands]. Ned Tijdschr Geneeskd (2009) 1.08
MTRR 66A>G polymorphism in relation to congenital heart defects. Clin Chem Lab Med (2006) 1.08
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat (2006) 1.07
Genetic determinants of plasma total homocysteine. Semin Vasc Med (2005) 1.06
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem (2011) 1.05
An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). Birth Defects Res A Clin Mol Teratol (2009) 1.05
Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. Eur J Hum Genet (2002) 1.04
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. Hum Mutat (2008) 1.04
Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells. Biochim Biophys Acta (2011) 1.04
Protective effect of periconceptional folic acid supplements on the risk of congenital heart defects: a registry-based case-control study in the northern Netherlands. Eur Heart J (2009) 1.03
Common 894G>T single nucleotide polymorphism in the gene coding for endothelial nitric oxide synthase (eNOS) and risk of congenital heart defects. Clin Chem Lab Med (2008) 1.02
Evidence that large granular lymphocytes of donor origin mediate acute graft-versus-host disease. Transplantation (1989) 1.02
Vitamin and homocysteine status of mothers and infants and the risk of nonsyndromic orofacial clefts. Am J Obstet Gynecol (2003) 1.01
Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A (2013) 1.01
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed (2006) 1.01
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. Eur J Hum Genet (2009) 1.01
Maternal homocysteine and small-for-gestational-age offspring: systematic review and meta-analysis. Am J Clin Nutr (2011) 1.01
The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida. J Mol Med (Berl) (2006) 1.00
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Mol Genet Metab (2008) 1.00
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab (2013) 1.00
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism. Clin Chem (2003) 1.00
TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis (2014) 0.99
Congenital disorders of glycosylation: sweet news. Curr Opin Pediatr (2011) 0.99
Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. Thromb Haemost (2002) 0.99
Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients. Clin Chem (2002) 0.99
Genetics of hyperhomocysteinaemia in cardiovascular disease. Ann Clin Biochem (2003) 0.98
A simple high-throughput method for the determination of plasma methylmalonic acid by liquid chromatography-tandem mass spectrometry. Clin Chem Lab Med (2007) 0.96
Neural tube defects, folic acid and methylation. Int J Environ Res Public Health (2013) 0.95
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain (2014) 0.95
Cystine dimethylester model of cystinosis: still reliable? Pediatr Res (2007) 0.95
Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida. Mol Genet Metab (2007) 0.95
Improved cardiovascular risk profile and renal function in renal transplant patients after randomized conversion from cyclosporine to tacrolimus. J Am Soc Nephrol (2003) 0.95
Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells. Biochem Biophys Res Commun (2005) 0.95