Published in Biochem Biophys Res Commun on January 31, 1972
Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet (1988) 2.35
Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry. J Clin Invest (1988) 1.80
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet (1995) 1.28
Folate distribution in cultured human cells. Studies on 5,10-CH2-H4PteGlu reductase deficiency. J Clin Invest (1979) 1.22
Mechanisms of cardiovascular remodeling in hyperhomocysteinemia. Antioxid Redox Signal (2011) 1.16
Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations. Am J Hum Genet (1991) 1.10
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. Arch Dis Child (1989) 0.93
Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. Arch Dis Child (1979) 0.93
Structural perturbations in the Ala --> Val polymorphism of methylenetetrahydrofolate reductase: how binding of folates may protect against inactivation. Biochemistry (2006) 0.90
Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency. J Cell Biochem (2008) 0.85
Extensive conjugation of dopamine (3,4-dihydroxyphenethylamine) metabolites in cultured human skin fibroblasts and rat hepatoma cells. Biochem J (1978) 0.84
Decreased rates of methionine synthesis by methylene tetrahydrofolate reductase-deficient fibroblasts and lymphoblasts. J Clin Invest (1981) 0.82
Activation of Nrf2-Antioxidant Response Element Mediated Glutamate Cysteine Ligase Expression in Hepatoma Cell line by Homocysteine. Hepat Mon (2013) 0.80
Recurrent unprovoked venous thromboembolism in a young female patient with high levels of homocysteine. Int J Angiol (2012) 0.80
Clinical Implications of Methylenetetrahydrofolate Reductase Mutations and Plasma Homocysteine Levels in Patients with Thromboembolic Occlusion. Vasc Specialist Int (2014) 0.78
Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency. Arch Dis Child (1996) 0.75
Lens fringe in homocystinuria. Br J Ophthalmol (1975) 0.75
Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr (2009) 0.75
Inborn errors of metabolism. Vitamin-responsive genetic disease. J Clin Pathol Suppl (R Coll Pathol) (1974) 0.75
Folate metabolism genetic polymorphisms and meningioma and glioma susceptibility in adults. Oncotarget (2017) 0.75
The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet (1985) 4.60
Prenatal genetic diagnosis. I. N Engl J Med (1970) 3.67
Mechanism of inhibition of spinach beta-cystathionase by rhizobitoxine. Biochim Biophys Acta (1971) 3.56
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem (2001) 3.37
Transsulfuration in mammals. Microassays and tissue distributions of three enzymes of the pathway. J Biol Chem (1965) 3.21
Light and electron microscopic observations on Rosenthal fibers in Alexander's disease and in multiple sclerosis. J Neuropathol Exp Neurol (1970) 2.85
Lemna paucicostata Hegelm. 6746: DEVELOPMENT OF STANDARDIZED GROWTH CONDITIONS SUITABLE FOR BIOCHEMICAL EXPERIMENTATION. Plant Physiol (1980) 2.76
Labile methyl balances for normal humans on various dietary regimens. Metabolism (1975) 2.53
Homocysteine biosynthesis in green plants. Physiological importance of the transsulfuration pathway in Chlorella sorokiniana growing under steady state conditions with limiting sulfate. J Biol Chem (1978) 2.42
Sulfur-containing Compounds in Lemna perpusilla 6746 Grown at a Range of Sulfate Concentrations. Plant Physiol (1978) 2.35
Prenatal genetic diagnosis (second of three parts). N Engl J Med (1970) 2.29
Type B hepatitis after needle-stick exposure: prevention with hepatitis B immune globulin. Final report of the Veterans Administration Cooperative Study. Ann Intern Med (1978) 2.29
Methionine biosynthesis in lemna: inhibitor studies. Plant Physiol (1982) 2.22
beta-Cystathionase In Vivo Inactivation by Rhizobitoxine and Role of the Enzyme in Methionine Biosynthesis in Corn Seedlings. Plant Physiol (1973) 2.14
Methionine Biosynthesis in Lemna: STUDIES ON THE REGULATION OF CYSTATHIONINE gamma-SYNTHASE, O-PHOSPHOHOMOSERINE SULFHYDRYLASE, AND O-ACETYLSERINE SULFHYDRYLASE. Plant Physiol (1982) 2.06
Alkaloids and Plant Metabolism. VII. The Kinetin-Produced Elevation in Tyramine Methylpherase Levels. Plant Physiol (1964) 2.03
A multicenter study of the efficacy of the ketogenic diet. Arch Neurol (1998) 1.99
Transsulfuration in higher plants. Partial purification and properties of beta-cystathionase of spinach. Biochim Biophys Acta (1971) 1.92
Homocysteine, MTHFR 677C-->T polymorphism, and risk of ischemic stroke: results of a meta-analysis. Neurology (2002) 1.92
Quantitative analysis of pathways of methionine metabolism and their regulation in lemna. Plant Physiol (1985) 1.91
Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria. Science (1968) 1.89
Homocysteine biosynthesis in green plants. O-Phosphorylhomoserine as the physiological substrate for cystathionine gamma-synthase. J Biol Chem (1974) 1.85
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity. N Engl J Med (1975) 1.83
A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochem Biophys Res Commun (1969) 1.82
Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism (1994) 1.81
Methionine metabolism in mammals. Distribution of homocysteine between competing pathways. J Biol Chem (1984) 1.75
Enzymes of phosphatidylcholine synthesis in lemna, soybean, and carrot. Plant Physiol (1988) 1.73
Responses of Sulfur-Containing Compounds in Lemna paucicostata Hegelm. 6746 to Changes in Availability of Sulfur Sources. Plant Physiol (1984) 1.69
Energy requirements of spasticity. Dev Med Child Neurol (2001) 1.67
Consensus nomenclature for the mammalian methionine adenosyltransferase genes and gene products. Trends Genet (1997) 1.67
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. Am J Dis Child (1969) 1.65
Homocysteine biosynthesis in green plants: studies of the homocysteine-forming sulfhydrylase. J Biol Chem (1977) 1.64
Activation of cystathionine synthase by adenosylmethionine and adenosylethionine. Biochem Biophys Res Commun (1975) 1.64
Uptake of Amino Acids and Other Organic Compounds by Lemna paucicostata Hegelm. 6746. Plant Physiol (1985) 1.62
Inflammation, homocysteine, and vitamin B6 status after ischemic stroke. Stroke (2003) 1.60
Efficacy of hepatitis B immune serum globulin after accidental exposure. Preliminary report of the Veterans Administration Cooperative Study. Lancet (1975) 1.59
A study of cardiovascular risk in heterozygotes for homocystinuria. Am J Hum Genet (1981) 1.54
Sulfate Uptake and Its Regulation in Lemna paucicostata Hegelm. 6746. Plant Physiol (1984) 1.53
Trans-sulfuration in mammals. The methionine-sparing effect of cystine. J Biol Chem (1967) 1.52
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. Am J Hum Genet (1978) 1.51
Phosphatidylcholine synthesis: differing patterns in soybean and carrot. Plant Physiol (1988) 1.50
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. DNA (1986) 1.50
Long-term outcome of children with severe head trauma and prolonged coma. Pediatrics (1983) 1.48
Recycling of methionine sulfur in a higher plant by two pathways characterized by either loss or retention of the 4-carbon moiety. Biochem Biophys Res Commun (1981) 1.47
Methionine metabolism in mammals. Adaptation to methionine excess. J Biol Chem (1986) 1.47
In vivo regulation of de novo methionine biosynthesis in a higher plant (lemna). Plant Physiol (1985) 1.45
Regulatory Structure of the Biosynthetic Pathway for the Aspartate Family of Amino Acids in Lemna paucicostata Hegelm. 6746, with Special Reference to the Role of Aspartokinase. Plant Physiol (1989) 1.44
Glycine N -methyltransferase deficiency: a new patient with a novel mutation. J Inherit Metab Dis (2003) 1.44
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. J Clin Invest (1970) 1.43
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia. J Inherit Metab Dis (2001) 1.42
Decision making in the nursery: an ethical dilemma. J Clin Ethics (1998) 1.39
Homocystinuria: studies in tissue culture. Pediatr Res (1973) 1.39
Sepsis due to Escherichia coli in neonates with galactosemia. N Engl J Med (1977) 1.37
Efficacy of the ketogenic diet for intractable seizure disorders: review of 58 cases. Epilepsia (1993) 1.36
Hemispherectomy for intractable unihemispheric epilepsy etiology vs outcome. Neurology (2003) 1.36
Lemna paucicostata Hegelm. 6746: LIFE CYCLE AND CHARACTERIZATION OF THE COLONY TYPES IN A POPULATION. Plant Physiol (1980) 1.36
Homoserine esterification in green plants. Plant Physiol (1974) 1.35
Why would you remove half a brain? The outcome of 58 children after hemispherectomy-the Johns Hopkins experience: 1968 to 1996. Pediatrics (1997) 1.34
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet (1993) 1.34
Labile methyl group balances in the human: the role of sarcosine. Metabolism (1980) 1.34
Biochemical diagnosis of an X-linked disease in utero. Lancet (1968) 1.34
Impact of cataract surgery with lens implantation on vision and physical function in elderly patients. JAMA (1987) 1.31
Homocysteine and its disulfide derivatives: a suggested consensus terminology. Arterioscler Thromb Vasc Biol (2000) 1.30
Stopping medication in children with epilepsy: predictors of outcome. N Engl J Med (1981) 1.30
Pseudodegenerative disease due to diphenylhydantoin intoxication. Arch Neurol (1969) 1.28
A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria. Am J Med (1970) 1.28
Defective metabolism of vitamin B 12 in fibroblasts from children with methylmalonicaciduria. Biochem Biophys Res Commun (1971) 1.28
Pyridoxine-responsive genetic disease. Fed Proc (1971) 1.28
Basioccipital meningocele. AJNR Am J Neuroradiol (1981) 1.24
In vivo metabolism of 5'-methylthioadenosine in lemna. Plant Physiol (1983) 1.24
A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of Sörbo's method. Clin Chim Acta (1979) 1.24
Homocysteine Biosynthesis in Green Plants: Physiological Importance of the Transsulfuration Pathway in Lemna paucicostata. Plant Physiol (1981) 1.24
Sulfite oxidase deficiency in man: demonstration of the enzymatic defect. Science (1967) 1.23
The ketogenic diet: a 3- to 6-year follow-up of 150 children enrolled prospectively. Pediatrics (2001) 1.23
Synthesis of homocysteine and cysteine by enzyme extracts of spinach. Biochem Biophys Res Commun (1967) 1.23
Benign methylmalonic aciduria. N Engl J Med (1984) 1.22
Massachusetts metabolic disorders screening program. I. Technics and results of urine screening. Pediatrics (1972) 1.21
A defect in pyruvate decarboxylase in a child with an intermittent movement disorder. J Clin Invest (1970) 1.21
Phytostat for the growth of lemna in semicontinuous culture with low sulfate. Plant Physiol (1978) 1.20
Threonine Synthase of Lemna paucicostata Hegelm. 6746. Plant Physiol (1984) 1.20
D-lactic acidosis simulating a hypothalamic syndrome after bowel bypass. Ann Neurol (1982) 1.20
Computerized axial tomography in chronic seizure disorders of childhood. Pediatrics (1976) 1.20
The paralysis associated with myelomeningocele: clinical and experimental data implicating a preventable spinal cord injury. Neurosurgery (1990) 1.19
Additional evidence of the relation between subacute inclusion-body encephalitis and measles virus. Lancet (1967) 1.19
Methionine Synthesis in Lemna: Inhibition of Cystathionine gamma-Synthase by Propargylglycine. Plant Physiol (1982) 1.18
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. J Clin Invest (1996) 1.18
Uptake of Choline and Ethanolamine by Lemna paucicostata Hegelm. 6746. Plant Physiol (1986) 1.17
Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture. Biochem Med (1970) 1.17
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. J Clin Invest (1976) 1.17
Febrile seizures: a consensus of their significance, evaluation, and treatment. Pediatrics (1980) 1.16
Galactosemia screening of newborns in Massachusetts. N Engl J Med (1971) 1.16
The ketogenic diet: seizure control correlates better with serum beta-hydroxybutyrate than with urine ketones. J Child Neurol (2000) 1.16