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
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0249608&type=printable |
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