Article
[Comparison of genotype and intellectual phenotype in untreated phenylketonuric children].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 1998
Yuan L, Fang B, Wang M, Wang T, Huang S, Yang T, Zhao S
Abstract excerpt
OBJECTIVE: The main feature of phenylketonuria(PKU) is mental retardation. Although classical PKU is defined as that the hepatic phenylalanine hydroxylase (PAH) activity ranges 0-1% of normal enzyme, the untreated PKU patients show a wide range of intellectual phenotype. This study sought to find the molecular basis of such variation of intellectual phenotype among PKU. METHODS: 45 classical PKU patients included...
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