Homocystinuria: Absence of Cystathionine in the Brain
- 7 August 1964
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 145 (3632), 588
- https://doi.org/10.1126/science.145.3632.588
Abstract
Cystathionine was absent in the cerebrum of a patient with homocystinuria. This supports the theory that the enzymatic defect in homocystinuria is deficiency of cystathionine synthetase.Keywords
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