Disease on EC 2.5.1.48 - cystathionine gamma-synthase
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Aberrant Crypt Foci
Dietary folate and selenium affect dimethylhydrazine-induced aberrant crypt formation, global DNA methylation and one-carbon metabolism in rats.
Argininosuccinic Aciduria
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
Arteriosclerosis
Chemical pathology of homocysteine. V. Thioretinamide, thioretinaco, and cystathionine synthase function in degenerative diseases.
Arteriosclerosis
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.
Atherosclerosis
Failure to produce atherosclerosis in Macaca radiata on a high-methionine, high-fat, pyridoxine-deficient diet.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Vitamins and inherited human errors of metabolism.
Carcinogenesis
Deletion of serine dehydrase and cystathionine synthetase activities during azo-dye carcinogenesis.
Carcinoma, Hepatocellular
BWTG3 hepatoma cells can acquire phenylalanine hydroxylase, cystathionine synthase and CPS-I without genetic manipulation, but activation of the silent OTC gene requires cell fusion with hepatocytes.
Carcinoma, Hepatocellular
Characterization of cystathionine synthase as a selectable, liver-specific trait in rat hepatomas.
Citrullinemia
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
cystathionine gamma-synthase deficiency
A study of cardiovascular risk in heterozygotes for homocystinuria.
cystathionine gamma-synthase deficiency
Alternative methionine degradation via the transamination pathway: an option for therapy for homocystinuria due to cystathionine synthase deficiency.
cystathionine gamma-synthase deficiency
Carriership for homocystinuria in juvenile vascular disease.
cystathionine gamma-synthase deficiency
Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts.
cystathionine gamma-synthase deficiency
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia.
cystathionine gamma-synthase deficiency
Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.
cystathionine gamma-synthase deficiency
Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.
cystathionine gamma-synthase deficiency
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity.
cystathionine gamma-synthase deficiency
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
cystathionine gamma-synthase deficiency
Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B6.
cystathionine gamma-synthase deficiency
Genetic and nongenetic factors for moderate hyperhomocyst(e)inemia.
cystathionine gamma-synthase deficiency
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.
cystathionine gamma-synthase deficiency
Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6.
cystathionine gamma-synthase deficiency
Homocystinuria due to cystathionine synthase deficiency.
cystathionine gamma-synthase deficiency
Homocystinuria due to cystathionine synthase deficiency. Studies of nitrogen balance and sulfur excretion.
cystathionine gamma-synthase deficiency
Homocystinuria due to cystathionine synthase deficiency: clinical-roentgenologic correlations.
cystathionine gamma-synthase deficiency
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.
cystathionine gamma-synthase deficiency
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
cystathionine gamma-synthase deficiency
Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.
cystathionine gamma-synthase deficiency
HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE.
cystathionine gamma-synthase deficiency
Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.
cystathionine gamma-synthase deficiency
Hyperhomocysteinemia as a risk factor for arterial and venous disease. A review of evidence and relevance.
cystathionine gamma-synthase deficiency
Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.
cystathionine gamma-synthase deficiency
Inborn errors of sulfur-containing amino acid metabolism.
cystathionine gamma-synthase deficiency
No sensory neuropathy during pyridoxine treatment in homocystinuria.
cystathionine gamma-synthase deficiency
Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency.
cystathionine gamma-synthase deficiency
Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.
cystathionine gamma-synthase deficiency
Treatment of hyperhomocyst(e)inemia: physiological basis.
cystathionine gamma-synthase deficiency
Urinary homocystine levels in a newborn infant with cystathionine synthase deficiency.
cystathionine gamma-synthase deficiency
[Homocystinuria accompanied with cerebral deep venous thrombosis--a case report]
cystathionine gamma-synthase deficiency
[Hyperhomocysteinemia--a risk factor for development of occlusive vascular diseases]
Dementia
The active site of oxidative phosphorylation and the origin of hyperhomocysteinemia in aging and dementia.
Ectopia Lentis
Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.
Homocystinuria
Alternative methionine degradation via the transamination pathway: an option for therapy for homocystinuria due to cystathionine synthase deficiency.
Homocystinuria
AN INBORN ERROR OF METABOLISM ASSOCIATED WITH DEFICIENCY OF ENZYME CYSTATHIONINE SYNTHETASE LEADING TO HOMOCYSTINURIA.
Homocystinuria
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Homocystinuria
Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria.
Homocystinuria
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia.
Homocystinuria
Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.
Homocystinuria
Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.
Homocystinuria
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity.
Homocystinuria
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
Homocystinuria
Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B6.
Homocystinuria
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.
Homocystinuria
Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6.
Homocystinuria
Homocystinuria due to cystathionine synthase deficiency. Studies of nitrogen balance and sulfur excretion.
Homocystinuria
Homocystinuria due to cystathionine synthase deficiency: clinical-roentgenologic correlations.
Homocystinuria
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.
Homocystinuria
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
Homocystinuria
Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.
Homocystinuria
HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE.
Homocystinuria
Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.
Homocystinuria
Homocystinuria: investigations of cystathionine synthase in cultured fetal cells and the prenatal determination of genetic status.
Homocystinuria
Hyperhomocysteinemia as a risk factor for arterial and venous disease. A review of evidence and relevance.
Homocystinuria
Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.
Homocystinuria
Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency.
Homocystinuria
Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.
Homocystinuria
Quasi-moyamoya disease and heterozygosity for homocystinuria in a five-year-old girl.
Homocystinuria
Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria.
Homocystinuria
Thiamine (vitamin B1) supplementation does not reduce fasting blood homocysteine concentration in most homozygotes for homocystinuria.
Homocystinuria
Urinary homocystine levels in a newborn infant with cystathionine synthase deficiency.
Homocystinuria
[Homocystinuria accompanied with cerebral deep venous thrombosis--a case report]
Hyperglycinemia, Nonketotic
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
Hyperhomocysteinemia
Chemical pathology of homocysteine. V. Thioretinamide, thioretinaco, and cystathionine synthase function in degenerative diseases.
Hyperhomocysteinemia
Hyperhomocysteinemia as a risk factor for arterial and venous disease. A review of evidence and relevance.
Hyperhomocysteinemia
The active site of oxidative phosphorylation and the origin of hyperhomocysteinemia in aging and dementia.
Hypothyroidism
Effects of hypothyroidism and thyroxine substitution on the metabolism of L-methionine, L-cystathionine and taurine in developing rat brain.
Hypothyroidism
SULPHUR-CONTAINING AMINO ACIDS METABOLISM IN EXPERIMENTAL HYPER- AND HYPOTHYROIDISM IN RATS.
Malnutrition
Chemical pathology of homocysteine. V. Thioretinamide, thioretinaco, and cystathionine synthase function in degenerative diseases.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
[Hyperhomocysteinemia--a risk factor for development of occlusive vascular diseases]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Vitamins and inherited human errors of metabolism.
Neoplasms
Homocysteine, Thioretinaco Ozonide, and Oxidative Phosphorylation in Cancer and Aging: A Proposed Clinical Trial Protocol.
Propionic Acidemia
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
Protein-Energy Malnutrition
Chemical pathology of homocysteine. V. Thioretinamide, thioretinaco, and cystathionine synthase function in degenerative diseases.
Thromboembolism
Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency.
Vascular Calcification
Hydrogen sulfide ameliorates vascular calcification induced by vitamin D3 plus nicotine in rats.
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