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    Academic Journal

    Source: Школа-конференция молодых ученых, аспирантов и студентов «Генетические технологии в микробиологии и микробное разнообразие».

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    Academic Journal

    Contributors: This study was sponsored by the Moscow Center for Innovative Technologies in Healthcare (project No. 2312/29-22)., Исследование поддержано грантом Правительства Москвы на реализацию научно-практического проекта в медицине (проект № 2312-29/22).

    Source: Advances in Molecular Oncology; Vol 12, No 1 (2025); 96-108 ; Успехи молекулярной онкологии; Vol 12, No 1 (2025); 96-108 ; 2413-3787 ; 2313-805X

    File Description: application/pdf

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    Academic Journal

    Contributors: The study was carried out within the framework of the State Assignment of the Ministry of Science and Higher Education for the Research Centre for Medical Genetics., Работа выполнена в рамках Государственного задания Министерства науки и высшего образования для ФГБНУ МГНЦ.

    Source: Medical Genetics; Том 24, № 9 (2025); 7-21 ; Медицинская генетика; Том 24, № 9 (2025); 7-21 ; 2073-7998

    File Description: application/pdf

    Relation: https://www.medgen-journal.ru/jour/article/view/3164/2024; Lin Y., Lin C., Lin B., et al. Newborn screening for fatty acid oxidation disorders in a southern Chinese population. Heliyon. 2024;10(1).; Hesse J., Braun C., Behringer S., et al. The diagnostic challenge in very−long chain acyl−CoA dehydrogenase deficiency (VLCADD). Journal of inherited metabolic disease. 2018;41(6):1169-1178.; Ruoppolo M., Malvagia S., Boenzi S., et al. Expanded newborn screening in Italy using tandem mass spectrometry: two years of national experience. International Journal of Neonatal Screening. 2022;8(3):47.; Remec Z.I., Groselj U., Drole Torkar A., et al. Very long-chain acylCoA dehydrogenase deficiency: High incidence of detected patients with expanded newborn screening program. Frontiers in Genetics. 2021;12:648493.; Sharma S., McKenzie M. The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency. Biomolecules. 2025;15(3):416.; Союз педиатров России. Клинические рекомендации: Дефицит ацил-КоА дегидрогеназы жирных кислот с очень длинной углеродной цепью у детей. 2016.; Kang S. Very Long Chain Acyl-coenzyme A Dehydrogenase Deficiency: A Review of Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment. Journal of The Korean Society of Inherited Metabolic disease. 2022;22(1):21-27.; Bertrand C., Largillière C., Zabot M.T., et al. Very long chain acylCoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease. 1993; 1180(3): 327-329.; Loeber J.G., Platis D., Zetterström R.H., et al. Neonatal screening in Europe revisited: an ISNS perspective on the current state and developments since 2010. International journal of neonatal screening. 2021;7(1):15.; Mitchell B., Scott-Schwoerer J., Kuhl A., et al. A Review of Newborn Screening for VLCADD: The Wisconsin Experience. International Journal of Neonatal Screening. 2025;11(2):23.; Рыжкова О.П., Кардымон О.Л., Прохорчук Е.Б. и др. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS)(редакция 2018, версия 2). Медицинская генетика. 2019;18(2):3-23.; Неонатальный скрининг: национальное руководство. Под ред. С.И.Куцева. – Москва: «ГЭОТАР-Медиа», 2023. 360 с.; Burrage L.C., Miller M.J., Wong L.J., et al. Elevations of C14: 1 and C14: 2 plasma acylcarnitines in fasted children: a diagnostic dilemma. The Journal of pediatrics. 2016;169:208-213.; Diekman E., de Sain-van der Velden M., Waterham H., et al. The newborn screening paradox: sensitivity vs. overdiagnosis in VLCAD deficiency. Springer Berlin Heidelberg. 2016;101-106.; Николаева Е.А., Шулякова И.В., Цыганкова П.Г. и др. Симптоматическая эпилепсия как проявление дефицита ацил-КоА дегидрогеназы жирных кислот с очень длинной углеродной цепью. Российский вестник перинатологии и педиатрии. 2008;53(3):87-91.; Spiekerkoetter U., Haussmann U., Mueller M., et al. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing. The Journal of pediatrics. 2010;157(4):668-673.; Olsson D., Barbaro M., Haglind C., et al. Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics. JIMD reports. 2022;63(2),181-190.; Alhumaidi S.S., Algaeed F.A., Aladhadh M.F., et al. Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype–phenotype analysis in a Saudi tertiary center. Frontiers in Genetics. 2025;16:1584817.; Obaid A., Nashabat M., Alfadhel M., et al. Clinical, biochemical, and molecular features in 37 Saudi patients with very long chain acyl CoA dehydrogenase deficiency. JIMD Reports. 2018;40:47-53.