Evidence map›Paper›PMID 42353313›Full record

ArticleInternational journal of molecular sciences2026

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

Ekaterina E Lotnik, Alena L Chukhrova, Nina V Ryadninskaya, Varvara A Kadnikova, Ekaterina Y Zakharova, Galina V Baydakova, Andrey R Osadchii, Inga V Anisimova, Sergei V Voronin, Sergey I Kutsev and 12 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Ekaterina E LotnikResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0009-0006-0132-106X
Alena L ChukhrovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Nina V RyadninskayaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Varvara A KadnikovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Ekaterina Y ZakharovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Galina V BaydakovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Andrey R OsadchiiResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0009-0008-4241-3301
Inga V AnisimovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Sergei V VoroninResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Sergey I KutsevResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Kirill V SavostyanovNational Medical Research Centre for Children's Health, Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia.ORCID 0000-0003-4885-4171
Fanil S BilalovRepublican Medical Genetic Centre, Gafuri St., 74, 450076 Ufa, Russia.
Alexander L KoroteevDiagnostic Centre (Medical Genetic), Tobolskaya St., 5A, 194044 Saint-Petersburg, Russia.ORCID 0000-0002-1568-3217
Dmitry Y TrofimovNational Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Akademika Oparina St., 4, 117997 Moscow, Russia.
Tatyana A BairovaScientific Centre for Family Health and Human Reproduction Problems, Timiryazeva St., 16, 664003 Irkutsk, Russia.
Gulnara N SeitovaTomsk National Research Medical Centre of the Russian Academy of Sciences, Naberezhnaya Reki Ushaiki St., 10, 634050 Tomsk, Russia.
Sergei V MordanovLaboratory Department of the Medical Genetic Center, Rostov State Medical University, Nakhichevanskiy per., 29, 344022 Rostov-na-Donu, Russia.
Svetlana A MatulevichScientific Research Institute-Ochapovsky Regional Clinical Hospital No. 1 of the Ministry of Health of the Krasnodar Region, No. 167, 1 Maya St., 350086 Krasnodar, Russia.
Tatyana A GolikhinaScientific Research Institute-Ochapovsky Regional Clinical Hospital No. 1 of the Ministry of Health of the Krasnodar Region, No. 167, 1 Maya St., 350086 Krasnodar, Russia.ORCID 0009-0004-1451-5758
Elena B NikolaevaClinical Diagnostic Centre "Mother and Child Healthcare", Flotskaya St., 52, 620067 Ekaterinburg, Russia.
Aleksander V PolyakovResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Olga A ShchaginaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0003-4905-1303

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 elevated phenylalanine levels (≥120 µmol/L) and a phenylalanine to tyrosine ratio of at least 1 detected during the first stage of screening using MS/MS. At the reference center, newborns underwent repeat biochemical testing and stepwise molecular analysis of HPA-associated genes. Two pathogenic variants in HPA-associated genes were identified in 538 newborns, including 534 newborns with biallelic pathogenic variants in

Indexed as

Neonatal ScreeningPhenylalanine HydroxylasePhenylketonuriasFemaleHumansInfant, NewbornMutationPhenylalanineRussiaTandem Mass SpectrometryPhenylalaninePhenylalanine HydroxylaseBH4hyperphenylalaninemiamolecular epidemiologyneonatal screeningPAHphenylalanine hydroxylasephenylketonuriatandem mass spectrometry

Identifiers

PMID42353313
PMCPMC13300071

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.