Biochem Biophys Res Commun
May 1965
Mudd, Stuart (U.S. Veterans Administration Hospital, Philadelphia, Pa.
View Article and Find Full Text PDFDeficiency of cystathioninie synthetase activity results in the clinical syndrome of homocystinuria. In both parents of a patient with homocystinuria, the hepatic cystathionine synthetase activity was 40 percent of that in unrelated control patients. These findings demonstrate that the metabolic error is inherited and suggest that the parents, although clinically normal, represent the heterozygous.
View Article and Find Full Text PDFA deficiency, or absence, of cystathionine synthetase activity has been demonstrated in liver obtained from a mentally retarded child with homocystinuria.
View Article and Find Full Text PDFTaubler, James H. (University of Pennsylvania, Philadelphia), Frank A. Kapral, and Stuart Mudd.
View Article and Find Full Text PDFAm J Public Health Nations Health
November 1962