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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Lotnik+EE%22">Lotnik EE</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Chukhrova+AL%22">Chukhrova AL</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ryadninskaya+NV%22">Ryadninskaya NV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kadnikova+VA%22">Kadnikova VA</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Zakharova+EY%22">Zakharova EY</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Baydakova+GV%22">Baydakova GV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Osadchii+AR%22">Osadchii AR</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Anisimova+IV%22">Anisimova IV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Voronin+SV%22">Voronin SV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kutsev+SI%22">Kutsev SI</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Savostyanov+KV%22">Savostyanov KV</searchLink>; National Medical Research Centre for Children's Health, Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bilalov+FS%22">Bilalov FS</searchLink>; Republican Medical Genetic Centre, Gafuri St., 74, 450076 Ufa, Russia.<br /><searchLink fieldCode="AU" term="%22Koroteev+AL%22">Koroteev AL</searchLink>; Diagnostic Centre (Medical Genetic), Tobolskaya St., 5A, 194044 Saint-Petersburg, Russia.<br /><searchLink fieldCode="AU" term="%22Trofimov+DY%22">Trofimov DY</searchLink>; National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Akademika Oparina St., 4, 117997 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bairova+TA%22">Bairova TA</searchLink>; Scientific Centre for Family Health and Human Reproduction Problems, Timiryazeva St., 16, 664003 Irkutsk, Russia.<br /><searchLink fieldCode="AU" term="%22Seitova+GN%22">Seitova GN</searchLink>; Tomsk National Research Medical Centre of the Russian Academy of Sciences, Naberezhnaya Reki Ushaiki St., 10, 634050 Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Mordanov+SV%22">Mordanov SV</searchLink>; Laboratory Department of the Medical Genetic Center, Rostov State Medical University, Nakhichevanskiy per., 29, 344022 Rostov-na-Donu, Russia.<br /><searchLink fieldCode="AU" term="%22Matulevich+SA%22">Matulevich SA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Golikhina+TA%22">Golikhina TA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nikolaeva+EB%22">Nikolaeva EB</searchLink>; Clinical Diagnostic Centre 'Mother and Child Healthcare', Flotskaya St., 52, 620067 Ekaterinburg, Russia.<br /><searchLink fieldCode="AU" term="%22Polyakov+AV%22">Polyakov AV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Shchagina+OA%22">Shchagina OA</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
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  Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2026 Jun 21; Vol. 27 (12). <i>Date of Electronic Publication: </i>2026 Jun 21.
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              Text: 2026 Jun 21
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