Phenylketonuria in a patient with cystin
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R. Minami; K. Olek; P. Wardenbach
📂
Article
📅
1975
🏛
Springer
🌐
English
⚖ 318 KB
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 cysti