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Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene

โœ Scribed by Wim Wuyts; Edwin Reyniers; Chantal Ceuterick; Katrien Storm; Thierry de Barsy; Jean-Jacques Martin


Book ID
101447870
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
147 KB
Volume
133A
Category
Article
ISSN
1552-4825

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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