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Sapropterin restores phenylalanine oxidation in mild hyperphenylalaninaemia


Book ID
120860309
Publisher
Adis International Limited (now part of Wolters Kluwer Health)
Year
2003
Weight
134 KB
Volume
&NA;
Category
Article
ISSN
1173-8324

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Complete restoration of phenylalanine ox
โœ Hiroya Yagi; Tsuyoshi Ogura; Hiroaki Mizukami; Masashi Urabe; Hiromi Hamada; Hir ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 251 KB

Background Classical phenylketonuria (PKU) arises from a deficiency of phenylalanine hydroxylase (PAH) that catalyses phenylalanine oxidation in the liver. Lack of PAH activity causes massive hyperphenylalaninemia and consequently severe brain damage. Preclinical studies showed that conventional ade