Published in Neurology on July 01, 2008
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. J Inherit Metab Dis (2011) 1.06
Isolated remethylation disorders: do our treatments benefit patients? J Inherit Metab Dis (2010) 1.01
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. Genet Med (2015) 0.84
MRI and (1)H-MRS in adenosine kinase deficiency. Neuroradiology (2016) 0.76
The value of neuroimaging in the assessment and follow-up of early-onset methylmalonic aciduria and homocystinuria. Mol Genet Metab Rep (2014) 0.75
Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders. JIMD Rep (2014) 0.75
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet (1995) 17.27
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet (1995) 5.58
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet (1998) 4.96
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med (1996) 4.11
Efficacy of intravenous continuous infusion of fluorouracil compared with bolus administration in advanced colorectal cancer. J Clin Oncol (1998) 3.79
Fatal enterovirus 71 encephalomyelitis. J Pediatr (1998) 3.39
Protection against lethal Sendai virus infection by in vivo priming of virus-specific cytotoxic T lymphocytes with a free synthetic peptide. Proc Natl Acad Sci U S A (1991) 3.15
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet (1996) 2.68
Defective gamma interferon production in leprosy. Reversal with antigen and interleukin 2. J Exp Med (1983) 2.61
The phosphotyrosine interaction domains of X11 and FE65 bind to distinct sites on the YENPTY motif of amyloid precursor protein. Mol Cell Biol (1996) 2.57
Alu sequences in the coding regions of mRNA: a source of protein variability. Trends Genet (1994) 2.49
Localization of the X inactivation centre on the human X chromosome in Xq13. Nature (1991) 2.48
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. J Inherit Metab Dis (2008) 2.46
Echocardiography predicts embolic events in infective endocarditis. J Am Coll Cardiol (2001) 2.43
Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis. N Engl J Med (1996) 2.38
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet (1995) 2.35
Validity of Euroqol--a generic health status instrument--in patients with rheumatoid arthritis. Economic and Health Outcomes Research Group. Br J Rheumatol (1994) 2.27
Role of cobalamin intake and atrophic gastritis in mild cobalamin deficiency in older Dutch subjects. Am J Clin Nutr (1998) 2.26
Insulin resistance syndrome in a representative sample of children and adolescents from Quebec, Canada. Int J Obes Relat Metab Disord (2004) 2.26
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology (2006) 2.19
The occurrence of a catabolic and an anabolic ornithine carbamoyltransferase in Pseudomonas. Biochim Biophys Acta (1967) 2.12
Behavioural problems in children who weigh 1000 g or less at birth in four countries. Lancet (2001) 2.08
A systematic review of the effectiveness of health service interventions aimed at reducing inequalities in health. J Health Serv Res Policy (1996) 2.08
Underlying disorders associated with severe early-onset preeclampsia. Am J Obstet Gynecol (1995) 2.04
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol (2000) 2.01
Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancet (1995) 2.00
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet (2001) 1.95
Reappraisal of hepatic arterial infusion in the treatment of nonresectable liver metastases from colorectal cancer. J Natl Cancer Inst (1996) 1.93
Isolation of enterotoxigenic Aeromonas from fish. Can J Microbiol (1977) 1.91
Model for mammalian metallothionein structure. Proc Natl Acad Sci U S A (1983) 1.91
Do you see what I see? Weight status misperception and exposure to obesity among children and adolescents. Int J Obes (Lond) (2008) 1.90
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
Population history and its impact on medical genetics in Quebec. Clin Genet (2005) 1.85
Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism (1994) 1.81
Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus. Hum Mol Genet (2001) 1.80
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell (1990) 1.80
[Omeprazole plus 2 antibiotics for the eradication of H. pylori, are 5 days of treatment sufficient?]. Rev Clin Esp (1998) 1.70
Homozygous familial hypercholesterolemia among French Canadians in Québec Province. Arteriosclerosis (1989) 1.68
Randomized double blind comparison of olanzapine vs. clozapine on subjective well-being and clinical outcome in patients with schizophrenia. Acta Psychiatr Scand (2005) 1.67
Evidence for a cluster of genes on chromosome 17q11-q21 controlling susceptibility to tuberculosis and leprosy in Brazilians. Genes Immun (2004) 1.65
Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description. Ann Neurol (1994) 1.64
Incidence of acquired demyelination of the CNS in Canadian children. Neurology (2009) 1.63
Serum interleukin 10 titers in systemic lupus erythematosus reflect disease activity. Lupus (1995) 1.63
[Leishmaniasis and human immunodeficiency virus infections]. Presse Med (1995) 1.61
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. J Pediatr (1998) 1.60
Is the common 677C-->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. QJM (1997) 1.59
Campylobacter enteritis and erythema nodosum. Lancet (1982) 1.59
Methotrexate in rheumatoid arthritis: an update with focus on mechanisms involved in toxicity. Semin Arthritis Rheum (1998) 1.59
The degree of neutropenia has a prognostic impact in low risk myelodysplastic syndrome. Leuk Res (2011) 1.58
Regulation of the carbamoylphosphate synthetase belonging to the arginine biosynthetic pathway of Saccharomyces cerevisiae. J Mol Biol (1972) 1.57
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet (1993) 1.57
Improvement of schizophrenic patients' subjective well-being under atypical antipsychotic drugs. Schizophr Res (2001) 1.56
Serum homocysteine level and protein intake are related to risk of microalbuminuria: the Hoorn Study. Kidney Int (1998) 1.56
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis (1990) 1.55
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation. J Med Genet (2004) 1.53
Unfiltered coffee increases plasma homocysteine concentrations in healthy volunteers: a randomized trial. Am J Clin Nutr (2000) 1.52
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem (1992) 1.51
Evidence that genetic susceptibility to Mycobacterium tuberculosis in a Brazilian population is under oligogenic control: linkage study of the candidate genes NRAMP1 and TNFA. Tuber Lung Dis (1997) 1.50
Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients. Arch Dermatol (2001) 1.50
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet (1997) 1.50
Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol (1998) 1.49
Neurologic crises in hereditary tyrosinemia. N Engl J Med (1990) 1.48
Repression of the genes for lysine biosynthesis in Saccharomyces cerevisiae is caused by limitation of Lys14-dependent transcriptional activation. Mol Cell Biol (1994) 1.48
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. N Engl J Med (1991) 1.48
The participation of ornithine and citrulline in the regulation of arginine metabolism in Saccharomyces cerevisiae. Eur J Biochem (1970) 1.48
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology (2011) 1.48
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet (1999) 1.48
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet (1999) 1.48
Environmental implications on the oxygenation of gasoline with ethanol in the metropolitan area of Mexico City. Environ Sci Technol (2001) 1.47
Hyperhomocysteinemia increases risk of death, especially in type 2 diabetes : 5-year follow-up of the Hoorn Study. Circulation (2000) 1.46
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr (1995) 1.46
Influence of aspirin on the clinical outcomes of 103 anti-phospholipid antibodies-positive patients. Lupus (2008) 1.45
Determinants of plasma homocysteine. Am J Clin Nutr (1998) 1.45
A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology (2005) 1.45
The adipose tissue phenotype of hormone-sensitive lipase deficiency in mice. Obes Res (2001) 1.45
Metabolic rate, not percent dehydration, predicts rectal temperature in marathon runners. Med Sci Sports Exerc (1991) 1.45
Folate, homocysteine and neural tube defects: an overview. Exp Biol Med (Maywood) (2001) 1.45
Cognitive dysfunction at baseline predicts symptomatic 1-year outcome in first-episode schizophrenics. Psychopathology (2000) 1.44
Iatrogenic pneumocephalus secondary to intravenous catheterization. Case report. J Neurosurg (1999) 1.44
Phylogenetic analysis of a reported complementary DNA sequence. Science (1994) 1.43
Facial anomalies in D-2-hydroxyglutaric aciduria. Am J Med Genet (1999) 1.42
Hyperhomocysteinemia is associated with an increased risk of cardiovascular disease, especially in non-insulin-dependent diabetes mellitus: a population-based study. Arterioscler Thromb Vasc Biol (1998) 1.42
Inversion of the normal interatrial septum convexity in acute myocardial infarction: incidence, clinical relevance and prognostic significance. J Am Coll Cardiol (1990) 1.42
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest (1996) 1.42
Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis (2006) 1.42
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom (1990) 1.41
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol (1999) 1.41
Cardiac functional improvement by a human Bcl-2 transgene in a mouse model of ischemia/reperfusion injury. J Gene Med (2001) 1.41
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis (2007) 1.41
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis (1993) 1.40