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Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
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 a cohort of 420 patients from neonat...
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| Pubblicato in: | Sci Rep |
|---|---|
| Autori principali: | , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group UK
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6244417/ https://ncbi.nlm.nih.gov/pubmed/30459323 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-35373-9 |
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