Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading.
نویسندگان
چکیده
Sardharwalla, I. B., Fowler, B., Robins, A. J., and Komrower, G. M. (1974). Archives of Disease in Childhood, 49, 553. Detection of heterozygotes for homocystinuria: study of sulphur-containing amino acids in plasma and urine after L-methionine loading. Twelve parents of patients with homocystinuria and 12 normal control subjects were given standard L-methionine loads. Determination of plasma concentrations of homocystine and cysteine-homocysteine disulphide, of urine concentration ratios of homocystine: cystine, cysteine-homocysteine disulphide : cystine, and homocysteic acid: cysteic acid allowed a distinction
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عنوان ژورنال:
- Archives of disease in childhood
دوره 49 7 شماره
صفحات -
تاریخ انتشار 1974