Homocystinuria: An Enzymatic Defect
- 27 March 1964
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 143 (3613) , 1443-1445
- https://doi.org/10.1126/science.143.3613.1443
Abstract
A deficiency, or absence, of cystathionine synthetase activity has been demonstrated in liver obtained from a mentally retarded child with homocystinuria.Keywords
This publication has 4 references indexed in Scilit:
- Homocystinuria: A new inborn error of Metabolism associated with Mental DeficiencyArchives of Disease in Childhood, 1963
- The identification of homocystine in the urineBiochemical and Biophysical Research Communications, 1962
- THE RELATION OF SULFUR METABOLISM TO ACID-BASE BALANCE AND ELECTROLYTE EXCRETION: THE EFFECTS OF DL-METHIONINE IN NORMAL MAN*†Journal of Clinical Investigation, 1959
- l-CYSTATHIONINE IN HUMAN BRAINJournal of Biological Chemistry, 1958