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Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population
BACKGROUND: Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency. Patients with severe HPA often have a difficult life. Early diagnosis of HPA before the develop...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8114530/ https://ncbi.nlm.nih.gov/pubmed/33980295 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01846-w |
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