Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.
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| Title: | Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation. |
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| Authors: | Lotnik EE; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Chukhrova AL; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Ryadninskaya NV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Kadnikova VA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Zakharova EY; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Baydakova GV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Osadchii AR; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Anisimova IV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Voronin SV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Savostyanov KV; National Medical Research Centre for Children's Health, Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia., Bilalov FS; Republican Medical Genetic Centre, Gafuri St., 74, 450076 Ufa, Russia., Koroteev AL; Diagnostic Centre (Medical Genetic), Tobolskaya St., 5A, 194044 Saint-Petersburg, Russia., Trofimov DY; National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Akademika Oparina St., 4, 117997 Moscow, Russia., Bairova TA; Scientific Centre for Family Health and Human Reproduction Problems, Timiryazeva St., 16, 664003 Irkutsk, Russia., Seitova GN; Tomsk National Research Medical Centre of the Russian Academy of Sciences, Naberezhnaya Reki Ushaiki St., 10, 634050 Tomsk, Russia., Mordanov SV; Laboratory Department of the Medical Genetic Center, Rostov State Medical University, Nakhichevanskiy per., 29, 344022 Rostov-na-Donu, Russia., Matulevich SA; Scientific 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., Golikhina TA; Scientific 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., Nikolaeva EB; Clinical Diagnostic Centre 'Mother and Child Healthcare', Flotskaya St., 52, 620067 Ekaterinburg, Russia., Polyakov AV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Shchagina OA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2026 Jun 21; Vol. 27 (12). Date of Electronic Publication: 2026 Jun 21. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1422-0067 |
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| DOI: | 10.3390/ijms27125597 |
