Related Content
Search Google Scholar for:
|
|
Science 27 March 1964: Vol. 143. no. 3613, pp. 1443 - 1445 DOI: 10.1126/science.143.3613.1443
|
|
Articles
Homocystinuria: An Enzymatic Defect
S. Harvey Mudd 1,
James D. Finkelstein 2,
Filadelfo Irreverre 2, and
Leonard Laster 2
1 National Institute of Mental Health, Bethesda 14, Maryland
2 National Institute of Arthritis and Metabolic Diseases, Bethesda 14
A deficiency, or absence, of cystathionine synthetase activity has been demonstrated in liver obtained from a mentally retarded child with homocystinuria.
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
- Homocysteine, vitamins, and vascular disease prevention.
- K. S McCully (2007)
Am. J. Clinical Nutrition
86, 1563S-1568S
| Abstract »
| Full Text »
| PDF »
- Effect of Folic Acid Supplementation on Risk of Cardiovascular Diseases: A Meta-analysis of Randomized Controlled Trials.
- L. A. Bazzano, K. Reynolds, K. N. Holder, and J. He (2006)
JAMA
296, 2720-2726
| Abstract »
| Full Text »
| PDF »
- Comparative Species Utilization and Toxicity of Sulfur Amino Acids.
- D. H. Baker (2006)
J. Nutr.
136, 1670S-1675S
| Abstract »
| Full Text »
| PDF »
- Inborn Errors of Sulfur-Containing Amino Acid Metabolism.
- J. D. Finkelstein (2006)
J. Nutr.
136, 1750S-1754S
| Abstract »
| Full Text »
| PDF »
- Homocysteine levels in A/J and C57BL/6J mice: genetic, diet, gender, and parental effects.
- S. Ernest, A. Hosack, W. E. O'Brien, D. S. Rosenblatt, and J. H. Nadeau (2005)
Physiol Genomics
21, 404-410
| Abstract »
| Full Text »
| PDF »
- Homocysteine, smoking and vascular disease.
- D.E.L. Wilcken (2002)
Eur. Heart J.
23, 1559-1560
| Full Text »
| PDF »
- In the Cystathionine {beta}-Synthase Knockout Mouse, Elevations in Total Plasma Homocysteine Increase Tissue S-Adenosylhomocysteine, but Responses of S-Adenosylmethionine and DNA Methylation Are Tissue Specific.
- S. F. Choumenkovitch, J. Selhub, P. J. Bagley, N. Maeda, M. R. Nadeau, D. E. Smith, and S.-W. Choi (2002)
J. Nutr.
132, 2157-2160
| Abstract »
| Full Text »
| PDF »
- Stroke in the young: Coming of age.
- S. J. Kittner (2002)
Neurology
59, 6-7
| Full Text »
| PDF »
- Estrogen and homocysteine.
- K. R Dimitrova, K. DeGroot, A. K Myers, and Y. D Kim (2002)
Cardiovasc Res
53, 577-588
| Abstract »
| Full Text »
| PDF »
- Vascular Outcome in Patients With Homocystinuria due to Cystathionine {beta}-Synthase Deficiency Treated Chronically: A Multicenter Observational Study.
- S. Yap, G. H.J. Boers, B. Wilcken, D. E.L. Wilcken, D. P. Brenton, P. J. Lee, J. H. Walter, P. M. Howard, and E. R. Naughten (2001)
Arterioscler Thromb Vasc Biol
21, 2080-2085
| Abstract »
| Full Text »
| PDF »
- Efficiency of homocysteine plus copper in inducing apoptosis is inversely proportional to {gamma}-glutamyl transpeptidase activity.
- G. BESSEDE, C. MIGUET, P. GAMBERT, D. NEEL, and G. LIZARD (2001)
FASEB J
15, 1927-1940
| Abstract »
| Full Text »
| PDF »
- Preliminary study of the genotoxic potential of homocysteine in human lymphocytes in vitro.
- J. Crott and M. Fenech (2001)
Mutagenesis
16, 213-217
| Abstract »
| Full Text »
| PDF »
- Folate and Vitamin B6 From Diet and Supplements in Relation to Risk of Coronary Heart Disease Among Women.
- E. B. Rimm, W. C. Willett, F. B. Hu, L. Sampson, G. A. Colditz, J. E. Manson, C. Hennekens, and M. J. Stampfer (1998)
JAMA
279, 359-364
| Abstract »
| Full Text »
| PDF »
- Irreversible Inhibition of Lysyl Oxidase by Homocysteine Thiolactone and Its Selenium and Oxygen Analogues. IMPLICATIONS FOR HOMOCYSTINURIA.
- G. Liu, K. Nellaiappan, and H. M. Kagan (1997)
J. Biol. Chem.
272, 32370-32377
| Abstract »
| Full Text »
| PDF »
- Homocyst(e)ine and Coronary Artery Disease: Clinical Evidence and Genetic and Metabolic Background.
- M. H. Moghadasian, B. M. McManus, and J. J. Frohlich (1997)
Arch Intern Med
157, 2299-2308
| Abstract »
| PDF »
- Homocysteine and Thrombotic Disease.
- A. D'Angelo and J. Selhub (1997)
Blood
90, 1-11
| Full Text »
| PDF »
- Homocysteine and Risk of Premature Coronary Heart Disease: Evidence for a Common Gene Mutation.
- P. M. Gallagher, R. Meleady, D. C. Shields, K. S. Tan, D. McMaster, R. Rozen, A. Evans, I. M. Graham, and A. S. Whitehead (1996)
Circulation
94, 2154-2158
| Abstract »
| Full Text »
- Genetic Disorders of Glutathione and Sulfur Amino-Acid Metabolism: New Biochemical Insights and Therapeutic Approaches.
- J. D. SCHULMAN, S. H. MUDD, J. A. SCHNEIDER, S. P. SPIELBERG, L. BOXER, J. OLIVER, L. CORASH, and M. SHEETZ (1980)
Ann Intern Med
93, 330-346
| Abstract »
| PDF »
- Aggravation or Initiation of Megaloblastosis by Amino Acids in the Diet.
- S. Waxman, J. Corcino, and V. Herbert (1970)
JAMA
214, 101-104
| Abstract »
| PDF »
- Homocystinuria: Vitamin B6 Dependent or Not?.
- G. W. FRIMPTER (1969)
Ann Intern Med
71, 209-211
| Abstract »
| PDF »
- Homocystinuria: Trial Treatment of a 5-Year Ola Severely Retarded Child With a Natural Diet Low in Methionine.
- N. A. J. CARSON (1967)
Arch Pediatr Adolesc Med
113, 95-97
| Abstract »
| PDF »
- The Pathogenesis of Homocystinuria: Implications for Treatment.
- G. E. GAULL (1967)
Arch Pediatr Adolesc Med
113, 103-108
| Abstract »
| PDF »
- Homocystinuria and Ectopia Lentis in Negro Family.
- R. P. Thomas, J. G. Hollowell, H. J. Peters, M. E. Coryell, and R. H. Lester (1966)
JAMA
198, 560-562
| Abstract »
| PDF »
- Studies in Cystathioninemia.
- S. BERLOW (1966)
Arch Pediatr Adolesc Med
112, 135-142
| Abstract »
| PDF »
- Homolanthionine Excretion in Homocystinuria.
- T. L. Perry, S. Hansen, and L. MacDougall (1966)
Science
152, 1750-1752
| Abstract »
| PDF »
- Homocystinuria: Excretion of a New Sulfur-Containing Amino Acid in Urine.
- T. L. Perry, S. Hansen, H.-P. Bar, and L. MacDougall (1966)
Science
152, 776-778
| Abstract »
| PDF »
- Homocystinuria Due to Cystathionine Synthase Deficiency: Combined Clinical Staff Conference at the National Institutes of Health.
- L. LASTER, G. L. SPAETH, S. H. MUDD, and J. D. FINKELSTEIN (1965)
Ann Intern Med
63, 1117-1143
| Abstract »
| PDF »
- Homocystinuria.
- H. H. WHITE, L. P. ROWLAND, S. ARAKI, H. L. THOMPSON, and D. COWEN (1965)
Arch Neurol
13, 455-470
| Abstract »
| PDF »
- Homocystinuria: Studies of 20 Families With 38 Affected Members.
- R. N. Schimke, V. A. McKusick, T. Huang, and A. D. Pollack (1965)
JAMA
193, 711-719
| Abstract »
| PDF »
- Homocystinuria due to Cystathionine Synthetase Deficiency: The Mode of Inheritance.
- J. D. Finkelstein, S. H. Mudd, F. Irreverre, and L. Laster (1964)
Science
146, 785-787
| Abstract »
| PDF »
|
|