The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine

Phenylketonuria (PKU) is hyperphenylalaninemia that develops due to a deficiency of the phenylalanine hydroxylase enzyme (PAH). Identification of variants in the PAH gene is necessary for verification of the diagnosis, choice of treatment tactics, detection of heterozygous carriers. The aim of the s...

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Detalles Bibliográficos
Autores principales: Fishchuk, Liliya, Rossokha, Zoia, Olkhovich, Natalia, Pichkur, Nataliia, Popova, Olena, Medvedieva, Nataliia, Vershyhora, Viktoriia, Dubitska, Olha, Shkurko, Tetiana, Popovych, Larysa, Bondar, Olga, Morozuk, Irina, Onyshchenko, Svitlana, Yevtushok, Lyubov, Tsizh, Oksana, Bryl, Iryna, Tul, Olena, Kalynka, Svitlana, Zinkina, Iryna, Matviiuk, Svitlana, Riabova, Yulianna, Gorovenko, Nataliia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421484/
https://www.ncbi.nlm.nih.gov/pubmed/36046396
http://dx.doi.org/10.1016/j.ymgmr.2022.100907

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