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

โœ Scribed by Tze-Tze Liu; Kwang-Jen Hsiao


Publisher
Springer
Year
1996
Tongue
English
Weight
47 KB
Volume
98
Category
Article
ISSN
0340-6717

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๐Ÿ“œ SIMILAR VOLUMES


Mutation analysis of the 6-pyruvoyl-tetr
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

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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