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Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). Furthermore, numerous studies on BH4-sensitive PAH deficiency have been conducted. To date, BH4, a cofactor of PAH, has not been used to treat PKU in Russia.Genotype data of patients with PKU can be us...
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| Publicat a: | PLoS One |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Public Library of Science
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6342299/ https://ncbi.nlm.nih.gov/pubmed/30668579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0211048 |
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