ThePAH gene, phenylketonuria, and a paradigm shift
نویسندگان
چکیده
منابع مشابه
The PAH gene, phenylketonuria, and a paradigm shift.
"Inborn errors of metabolism," first recognized 100 years ago by Garrod, were seen as transforming evidence for chemical and biological individuality. Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype, was identified in 1934 by Asbjörn Fölling. It is a disease with impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia (HPA). Its meta...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2007
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.20526