المؤلفون: S. B. Artemyeva, E. D. Belousova, D. V. Vlodavets, L. M. Kuzenkova, S. V. Mikhailova, T. V. Podkletnova, S. G. Popovich, E. V. Uvakina, E. L. Usacheva, С. Б. Артемьева, Е. Д. Белоусова, Д. В. Влодавец, Л. М. Кузенкова, С. В. Михайлова, Т. В. Подклетнова, С. Г. Попович, Е. В. Увакина, Е. Л. Усачева

المساهمون: The study was performed without external funding, Исследование проведено без спонсорской поддержки

المصدر: Medical Genetics; Том 23, № 1 (2024); 19-25 ; Медицинская генетика; Том 23, № 1 (2024); 19-25 ; 2073-7998

مصطلحات موضوعية: антисмысловые олигонуклеотиды, muscular dystrophy, Duchenne muscular dystrophy, exon skipping, casimersen, antisense oligonucleotides, мышечная дистрофия, ПМД Дюшенна, экзон-скиппинг, касимерсен

وصف الملف: application/pdf

العلاقة: https://www.medgen-journal.ru/jour/article/view/2407/1764Test; Drousiotou A., Ioannou P., Georgiou T., et al. Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus. Genet Test 1998; 2: 55–60.; Emery A.E. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord 1991; 1: 19–29.; Duan D., Goemans N., Takeda S., Mercuri E., Aartsma-Rus A. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021;7(1):13. doi:10.1038/s41572-021-00248-3.; Happi Mbakam C., Lamothe G., Tremblay J.P. Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy. Front Med (Lausanne). 2022;9:859930. doi:10.3389/fmed.2022.859930; Hoffman E.P., Brown R.H. Jr, Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919–28.; Клинические рекомендации «Прогрессирующая мышечная дистрофия Дюшенна. Прогрессирующая мышечная дистрофия Беккера». https://cr.minzdrav.gov.ru/schema/773Test.; Poysky J., Behavior in DMD Study Group. Behavior patterns in Duchenne muscular dystrophy: report on the Parent Project Muscular Dystrophy behavior workshop 8–9 of December 2006, Philadelphia, USA. Neuromuscul Disord 2007; 17: 986–94.; Ryder S., Leadley R.M., Armstrong N., et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12(1):79.; Coratti G., Pane M., Brogna C., et al. North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up. PLoS One. 2021;16(6):e0253882. doi:10.1371/journal.pone.0253882; de Feraudy Y., Ben Yaou R., Wahbi K., et al.Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy. Ann Neurol. 2021;89(2):280-292. doi:10.1002/ana.25951.; Shirley M. Casimersen: First Approval. Drugs. 2021;81(7):875-879. doi:10.1007/s40265-021-01512-2.; Iannaccone S. et al. Casimersen in Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping: Interim Results From the Phase 3 ESSENCE Trial. World Muscle Society Congress 2022. Neuromuscular Disorders 32 (2022) S42–S136. doi:10.1016/j.nmd.2022.07.248.; Iannaccone S. et al. Casimersen in Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping: Interim Results From the Phase 3 ESSENCE Trial. Presented at the Muscular Dystrophy Association Clinical & Scientific Conference, March 13–16, 2022, Nashville, TN. https://investorrelations.sarepta.com/static-files/d6ad5b34-752b-4d8b-ba15-bfa88394296fTest Access date 18. 12. 2023; Iannaccone S. et al. Casimersen in Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping: Interim Results From the Phase 3 ESSENCE Trial. Presented at the 27 th International Hybrid Annual Congress of the World Muscle Society; October 11–15, 2021; Halifax, Nova Scotia, Canada. Neuromuscular Disorders 31 (2021) S47–S162. doi:10.1016/j.nmd.2021.07.175; Iannaccone S. et al. Casimersen in Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping: Interim Results From the Phase 3 ESSENCE Trial. Presented at the Muscular Dystrophy Association Clinical & Scientific Conference, March 12–22, 2023, Dallas, TX & Virtual. https://www.mdaconference.org/abstract-library/casimersen-in-patients-with-duchenne-muscular-dystrophy-amenable-to-exon-45-skipping-interim-results-from-the-phase-3-essence-trialTest/ Access date 18. 12. 2023; Wagner K. et al. Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double-blind, placebo-controlled, dose-titration trial. Muscle and Nerve. 2021;64(3):285-292.; NCT02500381. https://clinicaltrials.gov/ct2/show/NCT02500381Test.; NCT02530905. https://clinicaltrials.gov/ct2/show/NCT02530905Test.; NCT03532542. An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy. https://www.clinicaltrials.gov/study/NCT03532542Test.; https://www.medgen-journal.ru/jour/article/view/2407Test

الإتاحة: https://doi.org/10.25557/2073-7998.2024.01.19-25Test
https://doi.org/10.1038/s41572-021-00248-3Test
https://doi.org/10.3389/fmed.2022.859930Test
https://doi.org/10.1371/journal.pone.0253882Test
https://doi.org/10.1002/ana.25951Test
https://doi.org/10.1007/s40265-021-01512-2Test
https://doi.org/10.1016/j.nmd.2022.07.248Test
https://doi.org/10.1016/j.nmd.2021.07.175Test
https://www.medgen-journal.ru/jour/article/view/2407Test

المؤلفون: Inga V. Anisimova, Svetlana B. Artemyeva, Elena D. Belousova, Nato D. Vashakmadze, Dmitriy V. Vlodavets, Tatiana A. Gremyakova, Olga S. Groznova, Valentina I. Guzeva, Elena V. Gusakova, Lyudmila M. Kuzenkova, Alexey L. Kurenkov, Sergey I. Kutsev, Svetlana V. Mikhaylova, Lyudmila P. Nazarenko, Sergey S. Nikitin, Artem Yu. Novikov, Tatiana V. Podkletnova, Elena V. Polevichenko, Alexander V. Polyakov, Gennady G. Prokopyev, Dmitry I. Rudenko, Svetlana A. Repina, Evgeniia V. Romanenko, Sergey O. Ryabykh, Gul’zhan E. Sakbaeva, Elena Yu. Sapego, Liliia R. Selimzyanova, Andrey A. Stepanov, Dmitry M. Subbotin, Vasiliy M. Suslov, Elena V. Tozliyan, Dmirty A. Feklistov, Nadezhda I. Shakhovskaya, Ekaterina V. Shreder, И. В. Анисимова, С. Б. Артемьева, Е. Д. Белоусова, Н. Д. Вашакмадзе, Д. В. Влодавец, Т. А. Гремякова, О. С. Грознова, В. И. Гузева, Е. В. Гусакова, Л. М. Кузенкова, А. Л. Куренков, С. И. Куцев, С. В. Михайлова, Л. П. Назаренко, С. С. Никитин, А. Ю. Новиков, Т. В. Подклетнова, Е. В. Полевиченко, А. В. Поляков, Г. Г. Прокопьев, Д. И. Руденко, С. А. Репина, Е. В. Романенко, С. О. Рябых, Г. Е. Сакбаева, Е. Ю. Сапего, Л. Р. Селимзянова, А. А. Степанов, Д. М. Субботин, В. М. Суслов, Е. В. Тозлиян, Д. А. Феклистов, Н. И. Шаховская, Е. В. Шредер

المساهمون: Not specified, Отсутствует

المصدر: Pediatric pharmacology; Том 20, № 5 (2023); 427-453 ; Педиатрическая фармакология; Том 20, № 5 (2023); 427-453 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, hereditary diseases, cardiomyopathies, pathogenetic therapy, rehabilitation, children, наследственные заболевания, кардиомиопатии, патогенетическая терапия, реабилитация

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.15690/pf.v20i5.2615Test
https://doi.org/10.1016/S1474-4422Test(09)70271-6
https://doi.org/10.1016/S1474-4422Test(18)30024-3
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https://doi.org/10.1016/j.nmd.2012.09.002Test
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https://doi.org/10.1542/peds.2014-2044Test
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https://doi.org/10.1038/ejhg.2012.301Test

المؤلفون: T. A. Gremyakova, S. B. Artemyeva, E. N. Baybarina, N. D. Vashakmadze, V. I. Guzeva, E. V. Gusakova, L. M. Kuzenkova, A. E. Lavrova, O. A. Lvova, S. V. Mikhaylova, L. P. Nazarenko, S. S. Nikitin, A. V. Polyakov, E. L. Dadali, A. G. Rumyantsev, G. E. Sakbaeva, V. M. Suslov, O. I. Gremyakova, A. A. Stepanov, N. I. Shakhovskaya, Т. А. Гремякова, С. Б. Артемьева, Е. Н. Байбарина, Н. Д. Вашакмадзе, В. И. Гузева, Е. В. Гусакова, Л. М. Кузенкова, А. Е. Лаврова, О. А. Львова, С. В. Михайлова, Л. П. Назаренко, С. С. Никитин, А. В. Поляков, Е. Л. Дадали, А. Г. Румянцев, Г. Е. Сакбаева, В. М. Суслов, О. И. Гремякова, А. А. Степанов, Н. И. Шаховская

المساهمون: State budget funding., Государственное бюджетное финансирование.

المصدر: Neuromuscular Diseases; Том 13, № 2 (2023); 10-19 ; Нервно-мышечные болезни; Том 13, № 2 (2023); 10-19 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2023-13-2

مصطلحات موضوعية: мышечная дистрофия Дюшенна, рекомендации, дистрофин, глюкокортикостероиды, витамин D, реабилитация, генотерапия, recommendations, dystrophin, glucocorticosteroids, vitamin D, physical therapy, gene therapy

وصف الملف: application/pdf

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المؤلفون: Galina V. Baidakova, Alexander A. Baranov, Irina V. Vakhlova, Nato D. Vashakmadze, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Ludmila M. Kuzenkova, Sergey I. Kutsev, Valentina I. Larionova, Tina V. Lobzhanidze, Ludmila K. Mikhailova, Svetlana V. Mikhailova, Sergey V. Moiseev, Leyla S. Namazova-Baranova, Sergey S. Nikitin, Natalya L. Pechatnikova, Olga A. Polyakova, Alla N. Semyachkina, Olga V. Udalova, Г. В. Байдакова, А. А. Баранов, И. В. Вахлова, Н. Д. Вашакмадзе, Е. Ю. Воскобоева, Е. Ю. Захарова, Л. М. Кузенкова, С. И. Куцев, В. И. Ларионова, Т. В. Лобжанидзе, Л. К. Михайлова, С. В. Михайлова, С. В. Моисеев, Л. С. Намазова-Баранова, С. С. Никитин, Н. Л. Печатникова, О. А. Полякова, А. Н. Семячкина, О. В. Удалова

المصدر: Pediatric pharmacology; Том 19, № 4 (2022); 342-353 ; Педиатрическая фармакология; Том 19, № 4 (2022); 342-353 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, diagnosis, treatment, prognosis, children, диагностика, лечение, прогноз

وصف الملف: application/pdf

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https://doi.org/10.1007/s004390100606Test
https://doi.org/10.1186/1750-1172-6-55Test
https://doi.org/10.1002/14651858.CD009354.pub4Test

المؤلفون: A. L. Kurenkov, L. M. Kuzenkova, B. I. Bursagova, V. V. Chernikov, O. V. Agranovich, L. G. Khachatryan, V. M. Kenis, V. A. Zherebtsova, M. N. Sarzhina, N. D. Odinaeva, A. R. Artemenko, G. A. Popova, E. A. Moroshek, E. E. Tabe, A. A. Nezhelskaya, A. A. Maksimenko, L. Ya. Akhadova, M. V. Indereikin, N. V. Duibanova, L. V. Tikhonova, A. V. Sapogovskiy, Z. M. Gadzhialieva, A. V. Grigorieva, V. S. Perminov, I. D. Fedonyuk, L. M. Kolpakchi, A. Yu. Kursakova, N. A. Tsurina, А. Л. Куренков, Л. М. Кузенкова, Б. И. Бурсагова, В. В. Черников, О. В. Агранович, Л. Г. Хачатрян, В. М. Кенис, В. А. Жеребцова, М. Н. Саржина, Н. Д. Одинаева, А. Р. Артеменко, Г. А. Попова, Е. А. Морошек, Е. Э. Табе, А. А. Нежельская, А. А. Максименко, Л. Я. Ахадова, М. В. Индерейкин, Н. В. Дуйбанова, Л. В. Тихонова, А. В. Сапоговский, З. М. Гаджиалиева, А. В. Григорьева, В. С. Перминов, И. Д. Федонюк, Л. М. Колпакчи, А. Ю. Курсакова, Н. А. Цурина

المصدر: Neurology, Neuropsychiatry, Psychosomatics; Vol 14, No 2 (2022); 117-125 ; Неврология, нейропсихиатрия, психосоматика; Vol 14, No 2 (2022); 117-125 ; 2310-1342 ; 2074-2711 ; 10.14412/2074-2711-2022-2

مصطلحات موضوعية: общая доза, botulinum therapy, incobotulinumtoxinA, lower limbs spasticity, upper limbs spasticity, sialorrhea, total dose, ботулинотерапия, спастичность нижних конечностей, спастичность верхних конечностей, сиалорея

وصف الملف: application/pdf

العلاقة: https://nnp.ima-press.net/nnp/article/view/1795/1401Test; https://nnp.ima-press.net/nnp/article/view/1795/1404Test; Sadowska M, Sarecka-Hujar B, Kopyta I. Cerebral palsy: current opinions on definition, epidemiology, risk factors, classification and treatment options. Neuropsychiatr Dis Treat. 2020 Jun 12;16:1505-1518. doi:10.2147/NDT.S235165; Graham HK, Rosenbaum P, Paneth N, et al. Cerebralpalsy. Nat Rev Dis Primers. 2016 Jan 7;2:15082. doi:10.1038/nrdp.2015.82; Heinen F, Desloovere K, Schroeder AS, et al. The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsy. Eur J Paediatr Neurol. 2010 Jan;14(1):45-66. doi:10.1016/j.ejpn.2009.09.005. Epub 2009 Nov 14.; Novak I, Morgan C, Fahey M, et al. State of the Evidence Traffic Lights 2019: Systematic Review of Interventions for Preventing and Treating Children with Cerebral Palsy. Curr Neurol Neurosci Rep. 2020 Feb 21;20(2):3. doi:10.1007/s11910-020-1022-z; Delgado MR, Bonikowski M, Carranza J, et al. Safety and efficacy of repeat open-label abobotulinumtoxinA treatment in pediatric cerebral palsy. J Child Neurol. 2017 Nov;32(13):1058-64. doi:10.1177/0883073817729918. Epub 2017 Sep 15.; Heinen F, Kanovsky P, Schroeder AS, et al. IncobotulinumtoxinA for the treatment of lowerlimb spasticity in children and adolescents with cerebral palsy: A phase 3 study. J Pediatr Rehabil Med. 2021;14(2):183-97. doi:10.3233/PRM-210040; Kanovsky P, Heinen F, Schroeder AS, et al. Safety and efficacy of repeat long-term incobotulinumtoxinA treatment for lower limb or combined upper/lower limb spasticity in children with cerebralpalsy. J Pediatr Rehabil Med. 2021 Dec; Куренков АЛ, Клочкова ОА, Кузенкова ЛМ и др. Многоуровневая ботулинотерапия при спастических формах детского церебрального паралича с тяжелыми двигательными нарушениями (GMFCS IV–V). Журнал неврологии и пси- хиатрии им. С.С. Корсакова. 2020;120(12):57-66. doi:10.17116/jnevro202012012157; Molenaers G, Desloovere K, Fabry G, De Cock P. The effects of quantitative gait assessment and botulinum toxin a on musculoskeletal surgery in children with cerebral palsy. J Bone Joint Surg Am. 2006 Jan;88(1):161-70. doi:10.2106/JBJS.C.01497; Кенис ВМ. Ортопедическое лечение деформаций стоп у детей с церебральным параличом: Автореф. дисс. … докт. мед. наук. Санкт-Петербург; 2014. 45 с.; Змановская ВА, Левитина ЕВ, Попков ДА и др. Длительное применение препарата ботулинического токсина типа А: Диспорт в комплексной реабилитации детей со спастическими формами церебрального паралича. Журнал неврологии и психиатрии им. С.С. Корса- кова. 2014;114(7):33-6.; Rowe FJ, Noonan CP. Botulinum toxin for the treatment of strabismus. Cochrane Database Syst Rev. 2017 Mar 2;3(3):CD006499. doi:10.1002/14651858.CD006499.pub4; Berweck S, Bonikowski M, Kim H, et al. Placebo-controlled clinical trial of incobotulinumtoxinA for sialorrhea in children: SIPEXI. Neurology. 2021 Aug 2;97(14):e1425-e1436. doi:10.1212/WNL.0000000000012573. Online ahead of print.; Jost WH, Steffen A, Berweck S. A critical review of incobotulinumtoxinA in the treatment of chronic sialorrhea in pediatric patients. Expert Rev Neurother. 2021 Oct;21(10):1059-68. doi:10.1080/14737175.2021.1979959. Epub 2021 Oct 4.; Love SC, Novak I, Kentish M, et al.; Cerebral Palsy Institute. Botulinum toxin assessment, intervention and after-care for lower limb spasticity in children with cerebral palsy: international consensus statement. Eur J Neurol. 2010 Aug;17 Suppl 2:9-37. doi:10.1111/j.1468-1331.2010.03126.x; Spasticity in children and young people with non-progressive brain disorders. London: Published by the RCOG Press at the Royal College of Obstetricians and Gynaecologists; 2012. 298 p.; Куренков АЛ, Клочкова ОА, Бурсагова БИ и др. Эффективность и безопасность применения ботулинического токсина типа А при лечении детского церебрального паралича. Журнал неврологии и психиатрии. 2017;117(11):44-51.; Carraro E, Trevisi E, Martinuzzi A. Safety profile of incobotulinum toxin A [Xeomin®] in gastrocnemious muscles injections in children with cerebral palsy: Randomized double-blind clinical trial. Eur J Paediatr Neurol. 2016;20(4):532-7.; Leon-Valenzuela A, Palacios JS, Del Pino Algarrada R. IncobotulinumtoxinA for the treatment of spasticity in children with cerebral palsy – a retrospective case series focusing on dosing and tolerability. BMC Neurol. 2020 Apr 8;20(1):126. doi:10.1186/s12883-020-01702-7; Dabrowski E, Chambers HG, Gaebler-Spira D, et al. IncobotulinumtoxinA efficacy/safety in upper-limb spasticity in pediatric cerebral palsy: randomized controlled trial. Pediatr Neurol. 2021 Oct;123:10-20. doi:10.1016/j.pediatrneurol. 2021.05.014. Epub 2021 May 21.; Куренков АЛ, Кузенкова ЛМ, Черников ВВ и др. Применение IncobotulinumtoxinA для лечения сиалореи у пациентов с детским церебральным параличом. Неврология, нейропсихиатрия, психосоматика. 2021;13(4):52-9. doi:10.14412/2074- 2711-2021-4-52-59; Куренков АЛ, Агранович ОВ, Кузенкова ЛМ и др. Выбор дозы препарата IncobotulinumtoxinA для лечения спастичности и сиалореи при детском церебральном параличе: результаты ретроспективного многоцентрового исследования. Неврологический журнал им. Л.О. Бадаляна. 2021;2(4):189-202. doi:10.46563/2686-8997-2021-2-4-189-202; Almina S, Karile Y, Audrone P, Indre B. Analgesic effect of botulinum toxin in children with cerebral palsy: A systematic review. Toxicon. 2021 Aug;199:60-67. doi:10.1016/j.toxicon.2021.05.012. Epub 2021 Jun 1.; Хачатрян ЛГ, Лялина АА, Зотова НС и др. Эффективность применения препарата ботулинического токсина типа А в лечении мышечной дистонии у детей. Вопросы практической педиатрии. 2019;14(3):58-67. doi:10.20953/1817-7646-2019-3-58-67; https://nnp.ima-press.net/nnp/article/view/1795Test

الإتاحة: https://doi.org/10.14412/2074-2711-2022-2-117-125Test
https://doi.org/10.14412/2074-2711-2022-2Test
https://doi.org/10.2147/NDT.S235165Test
https://doi.org/10.1038/nrdp.2015.82Test
https://doi.org/10.1016/j.ejpn.2009.09.005Test
https://doi.org/10.1007/s11910-020-1022-zTest
https://doi.org/10.1177/0883073817729918Test
https://doi.org/10.3233/PRM-210040Test
https://doi.org/10.3233/PRM-210041Test
https://doi.org/10.17116/jnevro202012012157Test

المؤلفون: Alexander A. Baranov, Leyla S. Namazova-Baranova, Sergey I. Kutsev, Tea V. Margieva, Nato D. Vashakmadze, Elena A. Vishneva, Lilia R. Selimzyanova, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Ludmila M. Kuzenkova, Tina V. Lobzhanidze, Lyudmila K. Mikhaylova, Olga A. Polyakova, Svetlana V. Mikhaylova, Sergei V. Moiseev, Tatiana V. Podkletnova, Alla N. Semechkina, Olga V. Udalova, Alisa V. Vitebskaya, Larisa P. Kisel’nikova, Mikhail M. Kostik, А. А. Баранов, Л. С. Намазова-Баранова, С. И. Куцев, Т. В. Маргиева, Н. Д. Вашакмадзе, Е. А. Вишнева, Л. Р. Селимзянова, Е. Ю. Воскобоева, Е. Ю. Захарова, Л. М. Кузенкова, Т. В. Лобжанидзе, Л. К. Михайлова, О. А. Полякова, С. В. Михайлова, С. В. Моисеев, Т. В. Подклетнова, А. Н. Семечкина, О. В. Удалова, А. В. Витебская, Л. П. Кисельникова, М. М. Костик

المصدر: Pediatric pharmacology; Том 17, № 6 (2020); 519-528 ; Педиатрическая фармакология; Том 17, № 6 (2020); 519-528 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, alkaline phosphatase, seizures, pulmonary hypoplasia, rickets, osteoporosis, nephrocalcinosis, man- agement, children, щелочная фосфатаза, судороги, гипоплазия легких, рахит, остеопороз, нефро- кальциноз, лечение

وصف الملف: application/pdf

العلاقة: https://www.pedpharma.ru/jour/article/view/1923/1197Test; Whyte MP. Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12(4):233–246. doi:10.1038/nrendo.2016.14.; Millán JL, Whyte MP. Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. 2016;98(4):398–416. doi:10.1007/s00223-015-0079-1.; Mornet E, Yvard A, Taillandier A, et al. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011;75(3):439–445. doi:10.1111/j.1469-1809.2011.00642.x.; Whyte MP, Leung E, Wilcox W, et al. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. Poster presented at the 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting. Vancouver, B.C., Canada, May 5, 2014. Abstract 752416.; Whyte MP, Zhang F, Wenkert D, et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 2015;75:229–239. doi:10.1016/j.bone.2015.02.022.; Bishop N, Munns CF, Ozono K. Transformative therapy in hypophosphatasia. Arch Dis Child. 2016;101(6):514–515. doi:10.1136/archdischild-2015-309579.; Anderson HC, Harmey D, Camacho NP, et al. Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. Am J Pathol. 2005;166(6):1711–1720. doi:10.1016/S0002-9440(10)62481-9.; Braunstein NА. Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia. Bone Rep. 2016;4:1–4. doi:10.1016/j.bonr.2015.10.005.; Whyte M. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman J, Igarashi T, eds. Genetics of bone biology and skeletal disease. London: Academic Press; 2013. pp. 337–360.; Whyte MP, Greenberg CR, Salman NJ, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904–913. doi:10.1056/NEJMoa1106173.; Kishnani PS, Rush ET, Arundel P, et al. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol genet metab. 2017;122(1–2):4–17. doi:10.1016/j.ymgme.2017.07.010.; Whyte MP, Coburn SP, Ryan LM, et al. Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology. Bone. 2018;110:96–106. doi:10.1016/j.bone.2018.01.022.; Rush ET. Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis. 2018;13(1):116. doi:10.1186/s13023-018-0866-7.; Simon S, Resch H, Klaushofer K, et al. Hypophosphatasia: From Diagnosis to Treatment. Curr Rheumatol Rep. 2018;20(11):69. doi:10.1007/s11926-018-0778-5.; Khan AA, Josse R, Kannu P, et al. Hypophosphatasia: Canadian update on diagnosis and management. Osteoporos Int. 2019;30(9):1713–1722. doi:10.1007/s00198-019-04921-y.; Mornet E. Hypophosphatasia. Metabolism. 2018;82:142–155. doi:10.1016/j.metabol.2017.08.013.; Briot K, Roux C. Adult hypophosphatasia. Arch Pediatr. 2017;24(5S2):5S71–5S73. doi:10.1007/s00198-015-3346-0.; https://www.pedpharma.ru/jour/article/view/1923Test

الإتاحة: https://doi.org/10.15690/pf.v17i6.2202Test
https://doi.org/10.1038/nrendo.2016.14Test
https://doi.org/10.1007/s00223-015-0079-1Test
https://doi.org/10.1111/j.1469-1809.2011.00642.xTest
https://doi.org/10.1016/j.bone.2015.02.022Test
https://doi.org/10.1136/archdischild-2015-309579Test
https://doi.org/10.1016/S0002-9440Test(10)62481-9
https://doi.org/10.1016/j.bonr.2015.10.005Test
https://doi.org/10.1056/NEJMoa1106173Test
https://doi.org/10.1016/j.ymgme.2017.07.010Test

المؤلفون: S. B. Artemieva, L. M. Kuzenkova, E. S. Ilyina, Yu. A. Kursakova, L. M. Kolpakchi, E. Yu. Sapego, A. A. Golenko, S. G. Popovich, D. V. Parshin, O. A. Shidlovskaya, Yu. O. Papina, A. V. Monakhova, D. V. Vlodavets, С. Б. Артемьева, Л. М. Кузенкова, Е. С. Ильина, Ю. А. Курсакова, Л. М. Колпакчи, Е. Ю. Сапего, А. А. Голенко, С. Г. Попович, Д. В. Паршин, О. А. Шидловская, Ю. О. Папина, А. В. Монахова, Д. В. Влодавец

المساهمون: Nusinersen drug delivered in Russia as part of an expanded access program from Biogen (USA) – for each patient for 1 year of use (6 vials for each patient). Hospitalization of patients in clinics was carried out at the expense of compulsory medical insurance., Препарат нусинерсен поставлен в Россию в рамках программы расширенного доступа компанией Biogen (США) – для каждого пациента на 1 год использования (по 6 флаконов на пациента). Госпитализация пациентов в клиники осуществлялась за счет средств ОМС.

المصدر: Neuromuscular Diseases; Том 10, № 3 (2020); 35-41 ; Нервно-мышечные болезни; Том 10, № 3 (2020); 35-41 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2020-10-3

مصطلحات موضوعية: ген SMN1, nusinersen, expanded access program, SMN1 gene, нусинерсен, программа расширенного доступа

وصف الملف: application/pdf

العلاقة: https://nmb.abvpress.ru/jour/article/view/396/274Test; Finkel R.S., Mercuri E., Meyer O.H. et al. Diagnosis and management of spinal muscular atrophy part 2: Pulmonary and acute care, medications, supplements and immunizations, other organ systems, and ethics. Neuromuscul Disord 2018;28(3):197–207. DOI:10.1016/j.nmd.2017.11.004. PMID: 29305137.; De Sanctis R., Coratti G., Amy Pasternak A. et al. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord 2016;26(11):754–9. DOI:10.1016/j.nmd.2016.10.002. PMID: 27769560.; Glanzman A.M., Mazzone E., Mainet M. et al. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability. Neuromuscul Disord 2010;20(3):155–61. DOI:10.1016/j.nmd.2009.11.014. PMID: 20074952.; Stull D., Williams V., Houghton K. et al. Minimal clinically important differences in motor function in patients with infantile-onset spinal muscular atrophy: results from the Phase 3 ENDEAR trial. Poster presented at the 2019 AMCP Annual Meeting; March 25, 2019. San Diego, CA. J Manag Care Spec Pharm 2019;25(3-a):S55. DOI:10.18553/jmcp.2019.25.3-a.s1.; Darras B.T., De Vivo D., Farrar M. et al. Safety profile of nusinersen in presymptomatic and infantile-onset spinal muscular atrophy (SMA): interim results from the NURTURE and ENDEAR/SHINE studies. AAN 2020. [URL: https://cslide-us.ctimeetingtech.com/aan2020/attendee/eposter/poster/2939Test].; Инструкция по медицинскому применению препарата Спинраза (МНН: нусинерсен) ЛП-005730 от 28.02.2020. [Instructions for medical use of the drug Spinraza (INN: nusinersen) LP-005730 dated 02.28.2020. (In Russ.)].; Finkel R.S., Mercuri E., Darras B.T. et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med 2017;377 (18):1723–32. DOI:10.1056/NEJMoa1702752. PMID: 29091570.; Finkel R.S., Castro D., Farrar M. et al. Interim report on the safety and efficacy of longer-term treatment with nusinersen in infantile-onset spinal muscular atrophy (SMA): updated results from the SHINE study. Communication presented at American Academy of Neurology 2019, 71st Annual Meeting; May 4–10, 2019.; https://nmb.abvpress.ru/jour/article/view/396Test

الإتاحة: https://doi.org/10.17650/2222-8721-2020-10-3-35-41Test
https://doi.org/10.17650/2222-8721-2020-10-3Test
https://doi.org/10.1016/j.nmd.2017.11.004Test
https://doi.org/10.1016/j.nmd.2016.10.002Test
https://doi.org/10.1016/j.nmd.2009.11.014Test
https://doi.org/10.18553/jmcp.2019.25.3-a.s1Test
https://doi.org/10.1056/NEJMoa1702752Test
https://nmb.abvpress.ru/jour/article/view/396Test

المؤلفون: Liliia A. Osipova, Ludmila M. Kuzenkova, Leyla S. Namazova-Baranova, Anait K. Gevorkyan, Tatiana V. Podkletnova, Nikolay A. Mayanskiy, Grigoriy V. Revunenkov, Nato D. Vashakmadze, Л. А. Осипова, Л. М. Кузенкова, Л. С. Намазова-Баранова, А. К. Геворкян, Т. В. Подклетнова, Н. А. Маянский, Г. В. Ревуненков, Н. Д. Вашакмадзе

المصدر: Current Pediatrics; Том 17, № 1 (2018); 76-84 ; Вопросы современной педиатрии; Том 17, № 1 (2018); 76-84 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: гликозаминогликаны, mucopolysaccharidosis, enzyme replacement therapy, laronidase, idursulfase, galsulfase, glycosaminoglycans, мукополисахаридоз, ферментозаместительная терапия, ларонидаза, идурсульфаза, галсульфаза

وصف الملف: application/pdf

العلاقة: https://vsp.spr-journal.ru/jour/article/view/1868/768Test; https://vsp.spr-journal.ru/jour/article/view/1868/774Test; Braunlin EA. Cardiac involvement in the mucopolysaccharide disoders. In: Moller JH, Hoffman JI, editors. Pediatric cardiovascular medicine. 2nd ed. NY: Wiley-Blackwell; 2012. pp. 982–991.; Neufeld E, Muenzer J. The mucopolysaccharidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. NY: McGraw-Hill; 2001. pp. 3421–3452.; Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucop olysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5. doi:10.1186/1750-1172-5-5.; Giugliani R, Federhen A, Rojas MV, et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genet Mol Biol. 2010;33(4):589–604. doi:10.1590/S1415-4757201000 5000093.; Tomatsu S, Yasuda E, Patel P, et al. Morquio A syndrome: diagnosis and current and future therapies. 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الإتاحة: https://doi.org/10.15690/vsp.v17i1.1858Test
https://doi.org/10.1186/1750-1172-5-5Test
https://doi.org/10.1590/S1415-4757201000Test
https://doi.org/10.1056/Nejm200101183440304Test
https://doi.org/10.1016/j.ymgme.2006.09.001Test
https://doi.org/10.1080/08035320510028139Test
https://doi.org/10.1016/j.jpeds.2004.01.046Test
https://doi.org/10.1097/01.gim.0000232477.37660.fbTest
https://doi.org/10.1542/peds.2004-1023Test
https://doi.org/10.1542/peds.2007-3847Test

المؤلفون: Victoriya A. Aysina, Aleksandr A. Buksh, Ludmila M. Kuzenkova, Olga V. Kozhevnikova, Vladislav V. Lebedev, Andrey A. Gazaryan, Tatyana V. Podkletnova, Sofiya G. Popovich, В. А. Айсина, А. А. Букш, Л. М. Кузенкова, О. В. Кожевникова, В. В. Лебедев, А. А. Газарян, Т. В. Подклетнова, С. Г. Попович

المساهمون: Not specifie, Не указан

المصدر: Current Pediatrics; Том 17, № 3 (2018); 250-253 ; Вопросы современной педиатрии; Том 17, № 3 (2018); 250-253 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: видео-ЭЭГ мониторинг, orphan diseases, mucopolysaccharidosis, epilepsy, diagnosis, electroencephalography, video-EEG monitoring, орфанные заболевания, мукополисахаридоз, эпилепсия, диагностика, электроэнцефалография

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.15690/vsp.v17i3.1895Test
https://doi.org/10.15690/vsp.v14i5.1436Test
https://doi.org/10.1371/journal.pone.0035787Test
https://doi.org/10.1086/320602Test
https://doi.org/10.1038/nrm3565Test
https://doi.org/10.3390/metabo4030655Test
https://doi.org/10.1542/peds.2010-1274Test
https://doi.org/10.3233/PRM-2010-0103Test
https://doi.org/10.1111/j.1651-2227.2007.00212.xTest
https://doi.org/10.1016/j.ymgme.2017.10.006Test

المؤلفون: Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Oksana V. Globa, Natalya V. Zhurkova, Elena A. Vishneva, Ekaterina Yu. Zakharova, Natalya G. Zvonkova, Ljudmila M. Kuzenkova, Sergey I. Kutsev, Svetlana V. Mikhaylova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexandr A. Pushkov, Kirill V. Savostyanov, Elena Yu. Voskoboeva, Liliia R. Selimzianova, Alla N. Semyachkina, А. А. Баранов, Л. С. Намазова-Баранова, Т. Э. Боровик, Т. В. Бушуева, О. В. Глоба, Н. В. Журкова, Е. А. Вишнёва, Е. Ю. Захарова, Н. Г. Звонкова, Л. М. Кузенкова, С. И. Куцев, С. В. Михайлова, Е. А. Николаева, П. В. Новиков, А. А. Пушков, К. В. Савостьянов, Е. Ю. Воскобоева, Л. Р. Селимзянова, А. Н. Семячкина

المصدر: Current Pediatrics; Том 16, № 6 (2017); 457-467 ; Вопросы современной педиатрии; Том 16, № 6 (2017); 457-467 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: цистеин, homocystin, homocysteine, homocystinuria, magnetic resonance imaging, methionine, Marfan-like syndrome, pyridoxine, lens subluxation, amino acid mixtures without methionine, cystathionine -synthase, cysteine, гомоцистин, гомоцистеин, гомоцистинурия, магнитно-резонансная томография, метионин, марфаноподобный синдром, пиридоксин, подвывих хрусталика, смеси аминокислот без метионина, цистатион -синтаза

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.15690/vsp.v16i6.1818Test
https://doi.org/10.1002/0471142905.hg1721s89Test
https://doi.org/10.1002/humu.22970Test
https://doi.org/10.1016/j.ymgme.2015.12.010Test
https://doi.org/10.1016/j.ymgme.2015.12.003Test
https://doi.org/10.1002/cphy.c150021Test
https://doi.org/10.1016/j.cca.2016.04.002Test
https://doi.org/10.2174/1389450117666160302094910Test
https://doi.org/10.1016/j.biochi.2016.01.001Test
https://vsp.spr-journal.ru/jour/article/view/1832Test