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
Description
ISSN:2409-515X
DOI:10.3390/ijns12010013