Published in Mol Genet Metab on May 01, 2003
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. J Biol Chem (2010) 1.61
Glycine N -methyltransferase deficiency: a new patient with a novel mutation. J Inherit Metab Dis (2003) 1.44
Inherited disorders in the conversion of methionine to homocysteine. J Inherit Metab Dis (2009) 0.97
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme. J Inherit Metab Dis (2008) 0.96
MRI and (1)H-MRS in adenosine kinase deficiency. Neuroradiology (2016) 0.76
Attenuated brain lesion on magnetic resonance imaging in an adult patient with methionine adenosyltransferase I/III deficiency. Neurol Sci (2017) 0.75
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA (2003) 4.65
Phenylketonuria. Lancet (2010) 3.58
Loss of the glycine N-methyltransferase gene leads to steatosis and hepatocellular carcinoma in mice. Hepatology (2008) 2.91
Ectopic expression of the sodium-iodide symporter enables imaging of transplanted cardiac stem cells in vivo by single-photon emission computed tomography or positron emission tomography. J Am Coll Cardiol (2008) 2.33
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology (2013) 2.32
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2009) 2.25
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab (2010) 2.21
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab (2010) 2.07
Median nerve superficial to the transverse carpal ligament. Orthopedics (2015) 1.97
Routine clinical brain MRI sequences for use at 3.0 Tesla. J Magn Reson Imaging (2005) 1.94
Total homocysteine is associated with white matter hyperintensity volume: the Northern Manhattan Study. Stroke (2005) 1.91
Sex and menopausal status influence human dietary requirements for the nutrient choline. Am J Clin Nutr (2007) 1.76
Cytoplasmic serine hydroxymethyltransferase regulates the metabolic partitioning of methylenetetrahydrofolate but is not essential in mice. J Biol Chem (2008) 1.73
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat (2007) 1.66
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. J Med Genet (2011) 1.64
Bacteriolytic therapy can generate a potent immune response against experimental tumors. Proc Natl Acad Sci U S A (2004) 1.63
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab (2006) 1.62
Glycine N-methyltransferase and regulation of S-adenosylmethionine levels. J Biol Chem (2009) 1.55
Regulation of methylbenzoate emission after pollination in snapdragon and petunia flowers. Plant Cell (2003) 1.54
Shmt1 and de novo thymidylate biosynthesis underlie folate-responsive neural tube defects in mice. Am J Clin Nutr (2011) 1.53
Homocysteine and methylmalonic acid: markers to predict and avoid toxicity from pemetrexed therapy. Mol Cancer Ther (2002) 1.51
Vitamin B12 deficiency as a worldwide problem. Annu Rev Nutr (2004) 1.46
Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol (2005) 1.46
Facial dysmorphism and skin manifestations in a patient with inherited systemic hyalinosis. J Pediatr (2011) 1.45
Adenosine kinase deficiency is associated with developmental abnormalities and reduced transmethylation. Plant Physiol (2002) 1.43
Plasma 25-hydroxyvitamin D and progression to diabetes in patients at risk for diabetes: an ancillary analysis in the Diabetes Prevention Program. Diabetes Care (2012) 1.42
Comparing McRoberts' and Rubin's maneuvers for initial management of shoulder dystocia: an objective evaluation. Am J Obstet Gynecol (2005) 1.40
Episiotomy versus fetal manipulation in managing severe shoulder dystocia: a comparison of outcomes. Am J Obstet Gynecol (2004) 1.39
Laboratory diagnosis of 1,4-BD and GHB overdose by routine urine organic acid analysis. Clin Toxicol (Phila) (2005) 1.39
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord (2008) 1.39
Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. J Pediatr (2013) 1.38
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet (2010) 1.36
Vitamin B12, homocysteine and carotid plaque in the era of folic acid fortification of enriched cereal grain products. CMAJ (2005) 1.34
Methyl balance and transmethylation fluxes in humans. Am J Clin Nutr (2007) 1.33
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet (2005) 1.32
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A (2004) 1.32
Liquid chromatography-mass spectrometry-based parallel metabolic profiling of human and mouse model serum reveals putative biomarkers associated with the progression of nonalcoholic fatty liver disease. J Proteome Res (2010) 1.29
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Hum Mutat (2002) 1.29
Zinc, gravida, infection, and iron, but not vitamin B-12 or folate status, predict hemoglobin during pregnancy in Southern Ethiopia. J Nutr (2008) 1.29
The use of betaine in the treatment of elevated homocysteine. Mol Genet Metab (2006) 1.24
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab (2007) 1.23
Candidate biomarkers in exosome-like vesicles purified from rat and mouse urine samples. Proteomics Clin Appl (2010) 1.21
Quantification of serum and urinary S-adenosylmethionine and S-adenosylhomocysteine by stable-isotope-dilution liquid chromatography-mass spectrometry. Clin Chem (2003) 1.20
Clinical report—health supervision for children with Prader-Willi syndrome. Pediatrics (2010) 1.20
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A (2014) 1.20
Changes in S-adenosylmethionine and GSH homeostasis during endotoxemia in mice. Lab Invest (2008) 1.19
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. Pflugers Arch (2004) 1.19
The Arabidopsis HOMOLOGY-DEPENDENT GENE SILENCING1 gene codes for an S-adenosyl-L-homocysteine hydrolase required for DNA methylation-dependent gene silencing. Plant Cell (2005) 1.18
Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol (2010) 1.17
Maternal choline intake modulates maternal and fetal biomarkers of choline metabolism in humans. Am J Clin Nutr (2012) 1.17
Identification and quantitation of cobalamin and cobalamin analogues in human feces. Am J Clin Nutr (2008) 1.16
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine. Proc Natl Acad Sci U S A (2010) 1.14
Pharmacologic and toxicologic evaluation of C. novyi-NT spores. Toxicol Sci (2005) 1.14
Mthfd1 is an essential gene in mice and alters biomarkers of impaired one-carbon metabolism. J Biol Chem (2008) 1.14
Versatility in corrinoid salvaging and remodeling pathways supports corrinoid-dependent metabolism in Dehalococcoides mccartyi. Appl Environ Microbiol (2012) 1.14
Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet (2001) 1.12
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain (2009) 1.10
Screening for cobalamin deficiency in geriatric outpatients: prevalence and influence of synthetic cobalamin intake. J Am Geriatr Soc (2002) 1.09
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Am J Med Genet A (2010) 1.08
Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism (2002) 1.08
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy. Obstet Gynecol (2006) 1.08
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Mol Genet Metab (2004) 1.06
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat (2011) 1.06
Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet (2009) 1.06
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency. Mol Genet Metab (2007) 1.04
HuR/methyl-HuR and AUF1 regulate the MAT expressed during liver proliferation, differentiation, and carcinogenesis. Gastroenterology (2010) 1.04
Serum methionine metabolites are risk factors for metastatic prostate cancer progression. PLoS One (2011) 1.03
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment. Mol Genet Metab (2010) 1.03
Vitamin B12 deficiency. N Engl J Med (2013) 1.03
Characterization of membrane potential-dependent uptake of the novel PET tracer 18F-fluorobenzyl triphenylphosphonium cation. Eur J Nucl Med Mol Imaging (2007) 1.02
Myocardial substrate and route of administration determine acute cardiac retention and lung bio-distribution of cardiosphere-derived cells. J Nucl Cardiol (2011) 1.02
Glycine N-methyltransferases: a comparison of the crystal structures and kinetic properties of recombinant human, mouse and rat enzymes. Proteins (2004) 1.01
Hyperhomocysteinemia and vitamin B-12 deficiency in elderly using Title IIIc nutrition services. Am J Clin Nutr (2003) 1.01
Adverse event associated with methionine loading test: a case report. Arterioscler Thromb Vasc Biol (2002) 1.01
MTHFR C677T genotype influences the isotopic enrichment of one-carbon metabolites in folate-compromised men consuming d9-choline. Am J Clin Nutr (2010) 1.01
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr (2003) 1.01
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment. Mol Genet Metab (2010) 1.00