BH(4)-deficient hyperphenylalaninemia in Russia

A timely detection of patients with tetrahydrobiopterin (BH(4)) -deficient types of hyperphenylalaninemia (HPABH(4)) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH(4) patients receive the same therapy as phenylalanine hydroxylase (PAH) -deficiency (pheny...

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Publicado en:PLoS One
Main Authors: Gundorova, Polina, Kuznetcova, Irina A., Baydakova, Galina V., Stepanova, Anna A., Itkis, Yulia S., Kakaulina, Victoria S., Alferova, Irina P., Lyazina, Lidya V., Andreeva, Lilya P., Kanivets, Ilya, Zakharova, Ekaterina Y., Kutsev, Sergey I., Polyakov, Aleksander V.
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2021
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8023510/
https://ncbi.nlm.nih.gov/pubmed/33822819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0249608
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