✦ LIBER ✦

Identification of mutations causing 6-pyruvoyl-tetrahydrobiopterin synthase deficiency in polish patients with variant hyperphenylalaninemia*

✍ Scribed by ZEKANOWSKI, C; NOWACKA, M; SENDECKA, E; SLOWIK, M; CABALSKA, B; BAL, J

Book ID: 123514086
Publisher: Adis International Limited (now part of Wolters Kluwer Health)
Year: 1998
Tongue: English
Weight: 285 KB
Volume: 3
Category: Article
ISSN: 1532-8619
DOI: 10.1016/S1084-8592(98)80047-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation analysis of the 6-pyruvoyl-tetr

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency

✍ Tze-Tze Liu; Kwang-Jen Hsiao; Sheng-Feng Lu; Sheu-Jen Wu; Kuei-Fen Wu; Szu-Hui C 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 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 mutations causing 6-py

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

✍ Tanja Oppliger; Beat Thöny; Claudia Kluge; Ana Matasovic; Claus W. Heizmann; Alb 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB

Communicated by R.G

Identification of a common 6-pyruvoyl-te

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency

✍ Tze-Tze Liu; Kwang-Jen Hsiao 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 47 KB

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

✍ Tze-Tze Liu; Yu-Hsin Chang; Szu-Hui Chiang; Yan-Ling Yang; Wei-Min Yu; Kwang-Jen 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 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