Article
Prospective analysis and classification of patients with cystinuria identified in a newborn screening program.
The Journal of pediatrics - 1 Apr 1993
Goodyer P R, Clow C, Reade T, Girardin C
Abstract excerpt
Patients who inherit mutant cystinuria genes excrete high concentrations of cystine, ornithine, arginine, and lysine in the urine. At least three variants of cystinuria can be distinguished in heterozygotes. To determine whether certain combinations of mutant genes are more disadvantageous than others, we analyzed amino acid excretion in families of 17 probands with cystinuria identified by the Quebec neonatal...
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