يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"A. N. Goryaynova"', وقت الاستعلام: 0.36s تنقيح النتائج
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    المصدر: Meditsinskiy sovet = Medical Council; № 1 (2016); 128-135 ; Медицинский Совет; № 1 (2016); 128-135 ; 2658-5790 ; 2079-701X ; 10.21518/2079-701X-2016-1

    وصف الملف: application/pdf

    Relation: https://www.med-sovet.pro/jour/article/view/22/22; Grabowski GA. Gaucher disease and other storage disorders. Hematology, 2012, December 8, 2012, 2012, 1: 13-18.; Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clinical Cases in Mineral and Bone Metabolism, 2015, 12(2): 157-164.; Huang WJ, Xhang X, Chen WW. Gaucher disease: a lysosomal neurodegenerative disorder. Eur Rev Med Pharmacoll Sci, 2015, 19: 1219-1226.; Dandana A, Khelifa SB, Chahed H, Miled A, Salima Ferchichi S. Gaucher Disease: Clinical, Biological and Therapeutic Aspects. Pathobiology, 2016, 83: 13-23.; Baris HN, Cohen IJ, MB and Mistry PK. Gaucher Disease: The Metabolic Defect, Pathophysiology, Phenotypes and Natural History. Pediatr Endocrinol Rev, 2014 September, 12(01): 72-81.; Simpson WL, Hermann G, Balwani M. Imaging of Gaucher disease. World J Radiol, 2014 September 28, 6(9): 657-668.; Thurberg BL, Wasserstein MP, Schiano T, O'Brien F et al. Liver and Skin Histopathology in Adults with Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B). Am J Surg Pathol., 2012 August, 36(8): 1234-1246.; Desnick JP, Kim J, He X et al. Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease. Mol Med, 2010 july-august, 16(7-8): 316-321.; Mukherjee SM, Pandey M, Kapoor S and Priva TP. Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow. Indian Pediatrics, 2012 june 16, 49: 490-492.; Rodriguez-Gil JL, Larson DM, Wassif CA et al. A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease. Mol Genet Metab., 2013, 110(0): 188-190.; Bergamin N, Dardis A, Beltrami A et al. A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. Orphanet J Rare Dis., 2013 Feb 21, 8: 34.; Blanchette-Mackie J, Dwyer NK, Amende LM et al. Type-C Niemann-Pick disease: Low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage ih lysosomes. Proc. Nati. Acad. Sci., 1988 November, 85: 8022-8026.; Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis., 2010, Jun 3, 5: 16. doi:10.1186/1750-1172-5-16. Review.; Федеральные клинические рекомендации по диагностике и лечению болезни Ниманна -Пика тип С (ФГБУ «Московский НИИ педиатрии и детской хирургии» Минздрава России (П.В. Новиков, А.Н. Семячкина, В.Ю. Воинова) и Медико-генетического научного центра РАМН (Е.Ю. Захарова). М., 2013. 35 с.; Abela L, Plecko B, Palla A, Burda P et al. Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet Journal of Rare Diseases, 2014, 9: 176.; Santillan-Hernandez Y, Almanza-Miranda E, Xin W et al. Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. World J Gastroenterol, 2015, January 21, 21(3): 1001-1008.; Bernstein DL, Hulkova H, Bialer MG, Robert J, Desnick RJ. Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease. Journal of Hepatology, 2013, 58: 1230-1243.; Burton BK, Deegan PB, Enns GM, Guardamagna O et al. Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr., 2015 Dec, 61(6): 619-25.; Balwani M, Breen C, Enns GM et al. Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients with Cholesteryl Ester Storage Disease. Hepatology, 2013 September, 58(3): 950-957.; Burton BK, Balwani M, Feillet F et al. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med., 2015 Sep 10, 373(11): 1010-20.; Valayannopoulos V, Malinova V, Honzik T et al. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol., 2014 November, 61(5): 1135-1142.; Federal кecommendations for the diagnosis and management of Niemann-Pick disease type C (Moscow Research Institute of Pediatrics and Pediatric Surgery, Russia's Ministry of Health (P.V. Novikov, A.N. Semyachkina, V.Y. Voinova) and Research Centre for Medical Genetics RAMS (E.Y. Zakharova). М., 2013. 35 p.; https://www.med-sovet.pro/jour/article/view/22