LEONARD LASTER, M.D.; GEORGE L. SPAETH, M.D.; S. HARVEY MUDD, M.D.; JAMES D. FINKELSTEIN, M.D.
Dr. Leonard Laster: In 1962, Carson and Neill (1) reported results of a survey in which samples of urine from 2,081 mentally retarded individuals in Northern Ireland were examined "by qualitative chemical tests and chromatographic techniques in order to detect any inborn errors of metabolism which might be a contributory factor responsible for brain damage in these people." They discovered two female siblings with similar clinical findings whose urine specimens gave positive reactions in the sodium nitroprusside-cyanide test (2) indicating an increased excretion of a sulfur-containing amino acid. Examination of the urinary amino acids by paper chromatography revealed that in
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LASTER L, SPAETH GL, MUDD SH, FINKELSTEIN JD. Homocystinuria Due to Cystathionine Synthase Deficiency: Combined Clinical Staff Conference at the National Institutes of Health. Ann Intern Med. 1965;63:1117–1143. doi: 10.7326/0003-4819-63-6-1117
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Published: Ann Intern Med. 1965;63(6):1117-1143.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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