| Literature DB >> 1176121 |
R Minami, K Olek, P Wardenbach.
Abstract
During routine screening procedures for amino-acid disorders by thin-layer chromatography, a 16-year-old boy was found to have phenylketonuria and cystinuria. A phenylalanine and a cystine loading were carried out. The patient was found to be homozygous for phenylketonuria and heterozygous for cystinuria type II. His father was heterozygous for phenylketonuria and cystinuria, while his mother proved to be heterozygous only for phenylketonuria.Entities:
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Year: 1975 PMID： 1176121 DOI： 10.1007/bf00284804
Source DB: PubMed Journal: Humangenetik ISSN： 0018-7348