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Article

BH4-deficient hyperphenylalaninemia in Russia.

PloS one - 1 Jan 2021

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

Abstract excerpt

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 (phenylketonuria) patients-dietary treatment-and do not receive substitutive BH4 therapy until the diagnosis is confirmed by...

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Identifiers

PMID: 33822819
DOI: 10.1371/journal.pone.0249608
PMCID: PMC8023510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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