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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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Gundorova, Polina, Stepanova, Anna A., Kuznetsova, Irina A., Kutsev, Sergey I., Polyakov, Aleksander V.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2019
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Acesso em linha: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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