Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
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DOI: 10.3389/fgene.2023.1049816
Abstract: Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine hydroxylase (PAH) gene. Without timely and appropriate dietary management, the disturbance of amino acid… read more here.
Keywords: newborns jiangxi; pahd; phenylalanine hydroxylase; mutation ... See more keywords