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Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin

โœ Scribed by Seymour Kaufman; Gregory Kapatos; William B. Rizzo; Joseph D. Schulman; Lawrence Tamarkin; Glen R. van Loon

Book ID
102706050
Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
789 KB
Volume
14
Category
Article
ISSN
0364-5134

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Mutation analysis of the 6-pyruvoyl-tetr
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency
โœ Tze-Tze Liu; Kwang-Jen Hsiao; Sheng-Feng Lu; Sheu-Jen Wu; Kuei-Fen Wu; Szu-Hui C ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 214 KB ๐Ÿ‘ 1 views

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

Identification of three novel 6-pyruvoyl
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency
โœ Tze-Tze Liu; Yu-Hsin Chang; Szu-Hui Chiang; Yan-Ling Yang; Wei-Min Yu; Kwang-Jen ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 228 KB

The enzyme 6-Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is the major cause of BH 4 -deficient HPA. The frequency of BH 4 -deficient HPA was estimated to be around 30% among Chinese HPA population in Taiwan, which is much higher than that in Caucasian population (1.5-2% of HPA). Approximatel