المؤلفون: Usenko TS; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina, Russia; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia. Electronic address: usenko_ts@pnpi.nrcki.ru., Senkevich KA; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, QC, Canada., Basharova KS; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina, Russia., Bezrukova AI; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina, Russia; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia., Baydakova GV; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina, Russia; Research Center for Medical Genetics, Moscow, Russia., Tyurin AA; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia., Beletskaya MV; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia., Kulabukhova DG; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina, Russia; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia., Grunina MN; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina, Russia., Emelyanov AK; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina, Russia; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia., Miliukhina IV; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina, Russia; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia; Institute of the Human Brain of RAS, Saint-Petersburg, Russia., Timofeeva AA; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia., Zakharova EY; Research Center for Medical Genetics, Moscow, Russia., Pchelina SN; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina, Russia; Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russia.

المصدر: Gene [Gene] 2023 Oct 05; Vol. 882, pp. 147639. Date of Electronic Publication: 2023 Jul 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Parkinson Disease*/genetics, Humans ; Glucosylceramidase/genetics ; Glucosylceramidase/metabolism ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/metabolism ; Mutation ; Sphingolipids ; Lysosomes

المؤلفون: Baydakova GV; Research Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia., Tsygankova PG; Research Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia., Pechatnikova NL; Morozov Children's City Clinical Hospital, 4th Dobryninsky Lane, 1/9, 119049 Moscow, Russia., Bazhanova OA; Research Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia., Nazarenko YD; Research Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia., Zakharova EY; Research Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia.

المصدر: International journal of neonatal screening [Int J Neonatal Screen] 2023 Aug 25; Vol. 9 (3). Date of Electronic Publication: 2023 Aug 25.

نوع المنشور: Journal Article

بيانات الدورية: 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

المؤلفون: Kopytova AE; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia.; Department of Molecular Genetic and Nanobiological Technologies, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia., Rychkov GN; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia.; Institute of Biomedical Systems and Biotechnology, Peter the Great St.Petersburg Polytechnic University, Saint-Petersburg 195251, Russia., Cheblokov AA; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia., Grigor'eva EV; Institute of Cytology and Genetics Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia.; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation, Novosibirsk 630055, Russia., Nikolaev MA; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia.; Department of Molecular Genetic and Nanobiological Technologies, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia., Yarkova ES; Institute of Cytology and Genetics Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Sorogina DA; Institute of Cytology and Genetics Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Ibatullin FM; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia., Baydakova GV; Research Centre for Medical Genetics, Moscow 115522, Russia., Izyumchenko AD; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia.; Department of Molecular Genetic and Nanobiological Technologies, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia., Bogdanova DA; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia., Boitsov VM; Laboratory of Nanobiotechnology, Saint-Petersburg National Research Academic University of the Russian Academy of Sciences, Saint-Petersburg 194021, Russia., Rybakov AV; N.P. Bechtereva Institute of the Human Brain RAS, Saint-Petersburg 197376, Russia., Miliukhina IV; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia.; N.P. Bechtereva Institute of the Human Brain RAS, Saint-Petersburg 197376, Russia., Bezrukikh VA; Almazov National Medical Research Centre, Saint-Petersburg 197341, Russia., Salogub GN; Almazov National Medical Research Centre, Saint-Petersburg 197341, Russia., Zakharova EY; Research Centre for Medical Genetics, Moscow 115522, Russia., Pchelina SN; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia.; Department of Molecular Genetic and Nanobiological Technologies, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia., Emelyanov AK; Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia.; Department of Molecular Genetic and Nanobiological Technologies, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 May 22; Vol. 24 (10). Date of Electronic Publication: 2023 May 22.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Parkinson Disease*/drug therapy , Parkinson Disease*/genetics , Gaucher Disease*/drug therapy , Gaucher Disease*/genetics, Humans ; Glucosylceramidase/genetics ; Glucosylceramidase/metabolism ; Molecular Docking Simulation ; Cell Culture Techniques ; Binding Sites ; Glycolipids ; Mutation

المؤلفون: Grigor'eva EV; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Kopytova AE; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia.; Department of Molecular Genetic and Nanobiological Technologies, Scientific and Research Centre, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia., Yarkova ES; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Pavlova SV; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Sorogina DA; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Malakhova AA; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Malankhanova TB; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Baydakova GV; Research Centre for Medical Genetics, Moscow 115522, Russia., Zakharova EY; Research Centre for Medical Genetics, Moscow 115522, Russia., Medvedev SP; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Pchelina SN; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Center «Kurchatov Institute», Gatchina 188300, Russia.; Department of Molecular Genetic and Nanobiological Technologies, Scientific and Research Centre, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia., Zakian SM; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 23; Vol. 24 (5). Date of Electronic Publication: 2023 Feb 23.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Parkinson Disease*/metabolism , Induced Pluripotent Stem Cells*/metabolism, Humans ; Glucosylceramidase/genetics ; Dopaminergic Neurons/metabolism ; Chromatography, Liquid ; Tandem Mass Spectrometry

المؤلفون: Averina OA; Institute of Functional Genomics, Lomonosov Moscow State University, 119992, Moscow, Russia; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow, 119992, Russia., Permyakov OA; Institute of Functional Genomics, Lomonosov Moscow State University, 119992, Moscow, Russia., Emelianova MA; Center for Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo, Moscow Region, 143025, Russia., Grigoryeva OO; Institute of Functional Genomics, Lomonosov Moscow State University, 119992, Moscow, Russia., Gulyaev MV; Faculty of Fundamental Medicine, Lomonosov Moscow State University, Moscow, 119991, Russia., Pavlova OS; Faculty of Fundamental Medicine, Lomonosov Moscow State University, Moscow, 119991, Russia., Mariasina SS; Institute of Functional Genomics, Lomonosov Moscow State University, 119992, Moscow, Russia., Frolova OY; Institute of Mitoengineering MSU, 119992, Moscow, Russia., Kurkina MV; Research Centre for Medical Genetics (FSBI, RCMG), 115522, Moscow, Russia., Baydakova GV; Research Centre for Medical Genetics (FSBI, RCMG), 115522, Moscow, Russia., Zakharova EY; Research Centre for Medical Genetics (FSBI, RCMG), 115522, Moscow, Russia., Marey MV; Research Center for Obstetrics, Gynecology and Perinatology, 117198, Moscow, Russia., Tsarev DA; Institute of Mitoengineering MSU, 119992, Moscow, Russia., Tashlitsky VN; Department of Chemistry, Lomonosov Moscow State University, Moscow, 119991, Russia., Popov VS; Faculty of Fundamental Medicine, Lomonosov Moscow State University, Moscow, 119991, Russia., Lovat ML; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow, 119992, Russia; Faculty of Fundamental Medicine, Lomonosov Moscow State University, Moscow, 119991, Russia; Institute of Mitoengineering MSU, 119992, Moscow, Russia., Polshakov VI; Faculty of Fundamental Medicine, Lomonosov Moscow State University, Moscow, 119991, Russia., Vyssokikh MY; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow, 119992, Russia; Research Center for Obstetrics, Gynecology and Perinatology, 117198, Moscow, Russia. Electronic address: mikhail.vyssokikh@gmail.com., Sergiev PV; Institute of Functional Genomics, Lomonosov Moscow State University, 119992, Moscow, Russia; Center for Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo, Moscow Region, 143025, Russia; Department of Chemistry, Lomonosov Moscow State University, Moscow, 119991, Russia. Electronic address: petya@genebee.msu.ru.

المصدر: Biochimie [Biochimie] 2023 Jan; Vol. 204, pp. 136-139. Date of Electronic Publication: 2022 Sep 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Editions Scientifiques Elsevier Country of Publication: France NLM ID: 1264604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1638-6183 (Electronic) Linking ISSN: 03009084 NLM ISO Abbreviation: Biochimie Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondria*/metabolism , Weight Gain*, Mice ; Animals ; Peptides/metabolism ; Triglycerides/metabolism ; Mice, Knockout ; Diet, High-Fat/adverse effects ; Oxidative Stress ; Lipid Metabolism

المؤلفون: Kopytova AE; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre 'Kurchatov Institute', Gatchina, Russia., Usenko TS; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre 'Kurchatov Institute', Gatchina, Russia.; First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia., Baydakova GV; Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Nikolaev MA; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre 'Kurchatov Institute', Gatchina, Russia.; First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia., Senkevich KA; First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia., Izyumchenko AD; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre 'Kurchatov Institute', Gatchina, Russia., Tyurin AA; First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia., Miliukhina IV; First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia.; N.P. Bechtereva Institute of the Human Brain, RAS, St. Petersburg, Russia., Emelyanov AK; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre 'Kurchatov Institute', Gatchina, Russia.; First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia., Zakharova EY; Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia., Pchelina SN; Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre 'Kurchatov Institute', Gatchina, Russia.; First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Aug; Vol. 37 (8), pp. 1779-1781. Date of Electronic Publication: 2022 Jul 06.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't; Comment

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Gaucher Disease* , Parkinson Disease*/diagnosis , Parkinson Disease*/genetics, Biomarkers ; Glucosylceramidase/genetics ; Humans ; Mutation/genetics ; alpha-Synuclein/genetics

المؤلفون: Usenko TS; Petersburg Nuclear Physics Institute Named By B.P. Konstantinov of National Research Centre «Kurchatov Institute», 1, mkr. Orlova roshcha, 188300, Gatchina, Russia. usenko_ts@pnpi.nrcki.ru.; Pavlov First Saint-Petersburg State Medical University, L'va Tolstogo str. 6-8, 197022, St. Petersburg, Russia. usenko_ts@pnpi.nrcki.ru., Senkevich KA; Petersburg Nuclear Physics Institute Named By B.P. Konstantinov of National Research Centre «Kurchatov Institute», 1, mkr. Orlova roshcha, 188300, Gatchina, Russia.; Pavlov First Saint-Petersburg State Medical University, L'va Tolstogo str. 6-8, 197022, St. Petersburg, Russia., Bezrukova AI; Petersburg Nuclear Physics Institute Named By B.P. Konstantinov of National Research Centre «Kurchatov Institute», 1, mkr. Orlova roshcha, 188300, Gatchina, Russia., Baydakova GV; Research Center for Medical Genetics, Moskvorechie str. 1, Moscow, 115478, Russia., Basharova KS; Petersburg Nuclear Physics Institute Named By B.P. Konstantinov of National Research Centre «Kurchatov Institute», 1, mkr. Orlova roshcha, 188300, Gatchina, Russia., Zhuravlev AS; Petersburg Nuclear Physics Institute Named By B.P. Konstantinov of National Research Centre «Kurchatov Institute», 1, mkr. Orlova roshcha, 188300, Gatchina, Russia., Gracheva EV; Institute of the Human Brain of RAS, 9, Pavlova str, St. Petersburg, 197376, Russia., Kudrevatykh AV; Institute of the Human Brain of RAS, 9, Pavlova str, St. Petersburg, 197376, Russia., Miliukhina IV; Pavlov First Saint-Petersburg State Medical University, L'va Tolstogo str. 6-8, 197022, St. Petersburg, Russia.; Institute of the Human Brain of RAS, 9, Pavlova str, St. Petersburg, 197376, Russia., Krasakov IV; The Nikiforov Russian Center of Emergency and Radiation Medicine, Optikov str. 54, 197082, St. Petersburg, Russia., Khublarova LA; V.M. Bekhterevs National Medical Research Center Psychiatry and Neurology, 3 Bekhterev str., 192019, St. Petersburg, Russia., Fursova IV; V.M. Bekhterevs National Medical Research Center Psychiatry and Neurology, 3 Bekhterev str., 192019, St. Petersburg, Russia., Zakharov DV; V.M. Bekhterevs National Medical Research Center Psychiatry and Neurology, 3 Bekhterev str., 192019, St. Petersburg, Russia., Timofeeva AA; Pavlov First Saint-Petersburg State Medical University, L'va Tolstogo str. 6-8, 197022, St. Petersburg, Russia., Irishina YA; Institute of the Human Brain of RAS, 9, Pavlova str, St. Petersburg, 197376, Russia., Palchikova EI; V.M. Bekhterevs National Medical Research Center Psychiatry and Neurology, 3 Bekhterev str., 192019, St. Petersburg, Russia., Zalutskaya NM; V.M. Bekhterevs National Medical Research Center Psychiatry and Neurology, 3 Bekhterev str., 192019, St. Petersburg, Russia., Emelyanov AK; Petersburg Nuclear Physics Institute Named By B.P. Konstantinov of National Research Centre «Kurchatov Institute», 1, mkr. Orlova roshcha, 188300, Gatchina, Russia.; Pavlov First Saint-Petersburg State Medical University, L'va Tolstogo str. 6-8, 197022, St. Petersburg, Russia., Zakharova EY; Research Center for Medical Genetics, Moskvorechie str. 1, Moscow, 115478, Russia., Pchelina SN; Petersburg Nuclear Physics Institute Named By B.P. Konstantinov of National Research Centre «Kurchatov Institute», 1, mkr. Orlova roshcha, 188300, Gatchina, Russia.; Pavlov First Saint-Petersburg State Medical University, L'va Tolstogo str. 6-8, 197022, St. Petersburg, Russia.; Institute of Experimental Medicine, 12, Acad. Pavlov Str, 197376, Saint-Petersburg, Russia.

المصدر: Molecular neurobiology [Mol Neurobiol] 2022 Apr; Vol. 59 (4), pp. 2277-2287. Date of Electronic Publication: 2022 Jan 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

مواضيع طبية MeSH: Lewy Body Disease*/metabolism , Multiple System Atrophy*/pathology , Parkinson Disease*/pathology , Synucleinopathies*, Ceramides ; Humans ; Sphingolipids ; Sphingomyelin Phosphodiesterase ; alpha-Galactosidase ; alpha-Synuclein/metabolism

المؤلفون: Voskoboeva EY; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia., Bookina TM; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia., Semyachkina AN; Research and Clinical Institute of Pediatrics named after Yuri Veltischev, Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow, Russia., Mikhaylova SV; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia.; Detached Structural Unit Russian Children's Clinical Hospital, Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation Research, Moscow, Russia., Vashakmadze ND; Pediatrics Department, Central Clinical Hospital of the Russian Academy of Sciences, Pirogov Russian National Research Medical University, Moscow, Russia., Baydakova GV; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia., Zakharova EY; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia., Kutsev SI; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia.

المصدر: Frontiers in molecular biosciences [Front Mol Biosci] 2022 Jan 24; Vol. 8, pp. 783644. Date of Electronic Publication: 2022 Jan 24 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653173 Publication Model: eCollection Cited Medium: Print ISSN: 2296-889X (Print) Linking ISSN: 2296889X NLM ISO Abbreviation: Front Mol Biosci Subsets: PubMed not MEDLINE

المؤلفون: Shaimardanova AA; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Chulpanova DS; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, The Russian Academy of Sciences, 19991 Moscow, Russia., Solovyeva VV; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, The Russian Academy of Sciences, 19991 Moscow, Russia., Garanina EE; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Salafutdinov II; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Laikov AV; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Kursenko VV; Individual Entrepreneur Kursenko V.V., 423800 Naberezhnye Chelny, Russia., Chakrabarti L; School of Veterinary Medicine and Science, University of Nottingham, Nottingham NG7 2RD, UK., Zakharova EY; Research Centre for Medical Genetics, 115478 Moscow, Russia., Bukina TM; Research Centre for Medical Genetics, 115478 Moscow, Russia., Baydakova GV; Research Centre for Medical Genetics, 115478 Moscow, Russia., Rizvanov AA; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.

المصدر: Life (Basel, Switzerland) [Life (Basel)] 2021 Sep 24; Vol. 11 (10). Date of Electronic Publication: 2021 Sep 24.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101580444 Publication Model: Electronic Cited Medium: Print ISSN: 2075-1729 (Print) Linking ISSN: 20751729 NLM ISO Abbreviation: Life (Basel) Subsets: PubMed not MEDLINE

المؤلفون: Gundorova P; Research Centre for Medical Genetics, Moscow, Russia., Kuznetcova IA; Research Centre for Medical Genetics, Moscow, Russia., Baydakova GV; Research Centre for Medical Genetics, Moscow, Russia., Stepanova AA; Research Centre for Medical Genetics, Moscow, Russia., Itkis YS; Research Centre for Medical Genetics, Moscow, Russia., Kakaulina VS; Federal State Budgetary Institution of Medical Department of Moscow 'Morozov Children's City Clinical Hospital of Medical Department of Moscow', Moscow, Russia., Alferova IP; Municipal Autonomous Health Care Institution of the Order of the Red Banner of Labor 'Clinical Hospital № 1', Chelyabinsk, Russia., Lyazina LV; Saint Petersburg State Public Health Institution 'Medical Genetic Diagnostic Center', Saint Petersburg, Russia., Andreeva LP; Saratov Regional Children's Clinical Hospital, Saratov, Russia., Kanivets I; Genomed, Moscow, Russia., Zakharova EY; Research Centre for Medical Genetics, Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, Moscow, Russia., Polyakov AV; Research Centre for Medical Genetics, Moscow, Russia.

المصدر: PloS one [PLoS One] 2021 Apr 06; Vol. 16 (4), pp. e0249608. Date of Electronic Publication: 2021 Apr 06 (Print Publication: 2021).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Phenylalanine Hydroxylase/*deficiency , Phenylketonurias/*epidemiology , Phosphorus-Oxygen Lyases/*deficiency, Case-Control Studies ; Humans ; Phenylketonurias/genetics ; Phenylketonurias/pathology ; Phosphorus-Oxygen Lyases/genetics ; Prognosis ; Retrospective Studies ; Russia/epidemiology

SCR Disease Name: 6-pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalaninemia, BH4-Deficient, B