Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
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DOI: 10.1038/s41598-018-35373-9
Abstract: Phenylalanine hydroxylase deficiency (PAHD), one of the genetic disorders resulting in hyperphenylalaninemia, has a complex phenotype with many variants and genotypes among different populations. Here, we describe the mutational and phenotypic spectrum of PAHD in… read more here.
Keywords: phenotypic spectrum; hydroxylase deficiency; phenylalanine hydroxylase; mutational phenotypic ... See more keywords