Article
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
Pediatrics - 1 Aug 1999
Güttler F, Azen C, Guldberg P, Romstad A, Hanley W B, Levy H L, Matalon R, Rouse B M, Trefz F, de la Cruz F, Koch R
Abstract excerpt
OBJECTIVE: To examine the relationship of phenylalanine hydroxylase (PAH) genotypes to biochemical phenotype and cognitive development in maternal phenylketonuria (PKU). METHODOLOGY: PAH gene mutations were examined in 222 hyperphenylalaninemic females enrolled in the Maternal PKU Collaborative Study (MPKUCS). A total of 84 different mutations were detected, and complete genotype was obtained in 199 individuals....
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