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Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

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Title: Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.
Authors: Zakharova EY; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Baydakova GV; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Baranova PV; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Aleksandrova DY; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Shchagina OA; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Itkis YS; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Milovanova NV; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Nagornova TS; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Ivanova ON; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Nazarenko YD; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Voronin SV; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Chukhrova AL; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Kadnikova VA; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Lotnik EE; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Ryadninskaya NV; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Polyakov AV; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Savostyanov KV; National Medical Research Center for Children's Health, 2 b.1 Lomonosovsky Ave., 119991 Moscow, Russia., Bilalov FS; Republican Medical Genetic Centre, 74 Gafuri St., 450076 Ufa, Russia., Koroteev AL; Diagnostic Centre (Medical Genetic), 5A Tobolskaya St., 194044 Saint-Petersburg, Russia., Trofimov DY; National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, 4 Akademik Oparin St., 117997 Moscow, Russia., Bairova TA; Scientific Centre for Family Health and Human Reproduction Problems, 16 Timiryazev St., 664003 Irkutsk, Russia., Seitova GN; Tomsk National Research Medical Centre of the Russian Academy of Sciences, 10 Naberezhnaya Reki Ushaiki St., 634050 Tomsk, Russia., Mordanov SV; Laboratory Department of the Medical Genetic Center, Rostov State Medical University, 29 Nakhichevanskiy Lane, 344022 Rostov-on-Don, Russia., Matulevich SA; Regional Clinical Hospital No 1 Named After Professor S.V. Ochapovsky, 167 May 1 St., 350086 Krasnodar, Russia., Nikolaeva EB; Mother and Child Healthcare Clinical Diagnostic Centre, 52 Flotskaya St., 620067 Yekaterinburg, Russia., Kutsev SI; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Source: International journal of neonatal screening [Int J Neonatal Screen] 2026 Mar 02; Vol. 12 (1). Date of Electronic Publication: 2026 Mar 02.
Publication Type: Journal Article
Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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  Data: Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.
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  Data: <searchLink fieldCode="AU" term="%22Zakharova+EY%22">Zakharova EY</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Baydakova+GV%22">Baydakova GV</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Baranova+PV%22">Baranova PV</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Aleksandrova+DY%22">Aleksandrova DY</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Shchagina+OA%22">Shchagina OA</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Itkis+YS%22">Itkis YS</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Milovanova+NV%22">Milovanova NV</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Nagornova+TS%22">Nagornova TS</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ivanova+ON%22">Ivanova ON</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Nazarenko+YD%22">Nazarenko YD</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Voronin+SV%22">Voronin SV</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Chukhrova+AL%22">Chukhrova AL</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kadnikova+VA%22">Kadnikova VA</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Lotnik+EE%22">Lotnik EE</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ryadninskaya+NV%22">Ryadninskaya NV</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Polyakov+AV%22">Polyakov AV</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Savostyanov+KV%22">Savostyanov KV</searchLink>; National Medical Research Center for Children's Health, 2 b.1 Lomonosovsky Ave., 119991 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bilalov+FS%22">Bilalov FS</searchLink>; Republican Medical Genetic Centre, 74 Gafuri St., 450076 Ufa, Russia.<br /><searchLink fieldCode="AU" term="%22Koroteev+AL%22">Koroteev AL</searchLink>; Diagnostic Centre (Medical Genetic), 5A Tobolskaya St., 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, 4 Akademik Oparin St., 117997 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bairova+TA%22">Bairova TA</searchLink>; Scientific Centre for Family Health and Human Reproduction Problems, 16 Timiryazev St., 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, 10 Naberezhnaya Reki Ushaiki St., 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, 29 Nakhichevanskiy Lane, 344022 Rostov-on-Don, Russia.<br /><searchLink fieldCode="AU" term="%22Matulevich+SA%22">Matulevich SA</searchLink>; Regional Clinical Hospital No 1 Named After Professor S.V. Ochapovsky, 167 May 1 St., 350086 Krasnodar, Russia.<br /><searchLink fieldCode="AU" term="%22Nikolaeva+EB%22">Nikolaeva EB</searchLink>; Mother and Child Healthcare Clinical Diagnostic Centre, 52 Flotskaya St., 620067 Yekaterinburg, Russia.<br /><searchLink fieldCode="AU" term="%22Kutsev+SI%22">Kutsev SI</searchLink>; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
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  Data: <searchLink fieldCode="JN" term="%22101665400%22">International journal of neonatal screening</searchLink> [Int J Neonatal Screen] 2026 Mar 02; Vol. 12 (1). <i>Date of Electronic Publication: </i>2026 Mar 02.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101665400 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2409-515X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222409515X%22">2409515X </searchLink><i>NLM ISO Abbreviation: </i>Int J Neonatal Screen <i>Subsets: </i>PubMed not MEDLINE
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        Text: English
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      – TitleFull: Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.
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              Text: 2026 Mar 02
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