BH4-deficient hyperphenylalaninemia in Russia.

BH4-deficient hyperphenylalaninemia in Russia.

A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH4 patients receive the same therapy as phenylalanine hydroxylase (PAH) -deficiency (phenylketon...

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Main Authors: Polina Gundorova, Irina A Kuznetcova, Galina V Baydakova, Anna A Stepanova, Yulia S Itkis, Victoria S Kakaulina, Irina P Alferova, Lidya V Lyazina, Lilya P Andreeva, Ilya Kanivets, Ekaterina Y Zakharova, Sergey I Kutsev, Aleksander V Polyakov
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0249608&type=printable
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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0249608&type=printable

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