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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023510/
https://www.ncbi.nlm.nih.gov/pubmed/33822819
http://dx.doi.org/10.1371/journal.pone.0249608

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