Molecular Genetic Study of Dihydropteridine Reductase Deficient Hyperphenylalaninemia in Chinese

碩士 === 國立陽明大學 === 遺傳學研究所 === 89 === Hyperphenylalainemia ( HPA ) is an autosomal recessive disorder of phenylalanine hydroxylation. For the hydroxylation to function normally, phenylalanine hydroxylase ( PAH ) and it’s cofactor, tetrahydrobiopterin ( BH4 ) are required. Dihydropteridine r...

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Bibliographic Details
Main Authors: Pei-Fen Yen, 顏培芬
Other Authors: Kwang-Jen Hsiao
Format: Others
Language:zh-TW
Published: 2001
Online Access:http://ndltd.ncl.edu.tw/handle/05412331480205815291

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