Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.

doi:10.3390/ijms27125597

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Article

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.

International journal of molecular sciences - 21 Jun 2026

Lotnik Ekaterina E, Chukhrova Alena L, Ryadninskaya Nina V, Kadnikova Varvara A, Zakharova Ekaterina Y, Baydakova Galina V, Osadchii Andrey R, Anisimova Inga V, Voronin Sergei V, Kutsev Sergey I, Savostyanov Kirill V, Bilalov Fanil S, Koroteev Alexander L, Trofimov Dmitry Y, Bairova Tatyana A, Seitova Gulnara N, Mordanov Sergei V, Matulevich Svetlana A, Golikhina Tatyana A, Nikolaeva Elena B, Polyakov Aleksander V, Shchagina Olga A

Abstract excerpt

Since January 2023, the Russian Federation has implemented expanded neonatal screening for 36 hereditary disorders, which has changed the diagnostic algorithm for hyperphenylalaninemia/phenylketonuria (HPA/PKU) by introducing tandem mass spectrometry (MS/MS) on the second day of life, followed by confirmatory biochemical and molecular testing in newborns at risk. We analyzed 1247 newborns aged 5-15 days with...

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PMID: 42353313
DOI: 10.3390/ijms27125597
PMCID: PMC13300071

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PAH
PTS
QDPR

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