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Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

✍ Scribed by V Leuzzi; Ca Carducci; Cl Carducci; S Pozzessere; A Burlina; R Cerone; D Concolino; MA Donati; L Fiori; C Meli; A Ponzone; F Porta; P Strisciuglio; I Antonozzi; N Blau

Book ID: 110888920
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 516 KB
Volume: 77
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2009.01306.x

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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