Hyperphenylalaninemia and 7-Pterin Excretion Associated with Mutations in 4a-Hydroxy-tetrahydrobiopterin Dehydratase/DCoH: Analysis of Enzyme Activity in Intestinal Biopsies

Author: Ayling J.E.   Bailey S.W.   Boerth S.R.   Giugliani R.   Braegger C.P.   Thöny B.   Blau N.  

Publisher: Academic Press

ISSN: 1096-7192

Source: Molecular Genetics and Metabolism, Vol.70, Iss.3, 2000-07, pp. : 179-188

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