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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Detalles Bibliográficos
Autores principales: Gundorova, Polina, Stepanova, Anna A., Kuznetsova, Irina A., Kutsev, Sergey I., Polyakov, Aleksander V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342299/
https://www.ncbi.nlm.nih.gov/pubmed/30668579
http://dx.doi.org/10.1371/journal.pone.0211048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342299/
https://www.ncbi.nlm.nih.gov/pubmed/30668579
http://dx.doi.org/10.1371/journal.pone.0211048

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