Article
Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.
Gene - 15 Feb 2013
Karam Pascale E, Alhamra Rasha Shahabeddeen, Nemer Georges, Usta Julnar
Abstract excerpt
Phenylketonuria is an autosomal recessive inborn error of metabolism resulting from phenylalanine hydroxylase deficiency. Genetic basis of phenylalanine hydroxylase deficiency has been reported in various European and Asian countries with few reports available in Arab populations of the Mediterranean region. This is the first pilot study describing phenotype and genotype of 23 Lebanese patients with...
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