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Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese

✍ Scribed by Tze-Tze Liu; Szu-Hui Chiang; Sheu-Jen Wu; Kwang-Jen Hsiao


Book ID
117074440
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
161 KB
Volume
313
Category
Article
ISSN
0009-8981

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Hyperphenylalaninemia (HPA) may be caused by deficiency of phenylalanine hydroxylase or tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a major cause of BH4 deficient HPA. In this study, seven singl