Article
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.
Acta paediatrica (Oslo, Norway : 1992) - 1 Jan 2002
Verduci E, Riva E, Agostoni C, Leviti S, Fiori L, Lammardo A M, Biondi M L, Giovannini M
Abstract excerpt
UNLABELLED: The aim of this study was to determine whether any relationship exists between the severity of mutation of the phenylalanine hydroxylase (PAH) gene and the plasma concentrations of phenylalanine (Phe) and tyrosine (Tyr) under fasting and semifasting conditions among heterozygotes in a matched case-control study. Parents of patients affected by PAH deficiency (n = 25) detected through the Italian...
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