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1Academic Journal
Authors: Natalya N. Martynovich, Yulia P. Semshchikova, Natalya Yu. Rudenko, Vera M. Shinkareva, Kristina V. Egorycheva, Н. Н. Мартынович, Ю. П. Съемщикова, Н. Ю. Руденко, В. М. Шинкарева, К. В. Егорычева
Contributors: Not specified., Не указан.
Source: Pediatric pharmacology; Том 17, № 5 (2020); 455-458 ; Педиатрическая фармакология; Том 17, № 5 (2020); 455-458 ; 2500-3089 ; 1727-5776
Subject Terms: дети раннего возраста, lysosomal storage diseases, Hunter syndrome, congenital defect of glycosaminoglycans metabolism, idursulfase, iduronate-2-sulfatase, enzyme replacement therapy, infants, лизосомные болезни накопления, болезнь Хантера, врожденный дефект метаболизма гликозаминогликанов, идурсульфаза, идуронат-2-сульфатаза, ферментзаместительная терапия
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Relation: https://www.pedpharma.ru/jour/article/view/1905/1189; Атлас редких болезней / под ред. А.А. Баранова, Л.С. Намазовой-Барановой. — 2-е изд., испр. и доп. — М.: ПедиатрЪ; 2016. — 420 с.; Мартынович Н.Н., Барзунова Т.В., Съемщикова Ю.П. Опыт практической подготовки будущих врачей педиатров по дисциплине по выбору «Орфанные заболевания» // Тихоокеанский медицинский журнал. — 2020. — № 1(79). — С. 85–87. doi:10.34215/1609-1175-2020-1-85-87.; Martin R, Beck M, Eng C, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121(2):377–386. doi:10.1542/peds.2007-1350.; Thappa DM, Singh A, Jaisankar TJ, et al. Pebbling of the Skin: A Marker of Hunter’s Syndrome. Pediatr Dermatol.1998;15(5):370–373. doi:10.1046/j.1525-1470.1998.1998015370.x.; https://www.pedpharma.ru/jour/article/view/1905
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2Academic Journal
Authors: A. L. Kurenkov, T. V. Podkletnova, L. M. Kuzenkova, B. I. Bursagova, S. S. Nikitin, A. K. Gevorkyan, N. D. Vashakmadze, А. Л. Куренков, Т. В. Подклетнова, Л. М. Кузенкова, Б. И. Бурсагова, С. С. Никитин, А. К. Геворкян, Н. Д. Вашакмадзе
Source: Neuromuscular Diseases; № 4 (2013); 24-29 ; Нервно-мышечные болезни; № 4 (2013); 24-29 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2013-0-4
Subject Terms: скорость распространения возбуждения по периферическому нерву, mucopolysaccharidosis II, mucopolysaccharidosis III, mucopolysaccharidosis IV, mucopolysaccharidosis VI, enzyme-replacement therapy, carpal tunnel syndrome, electromyography, distal latency CMAP, conduction velocity, мукополисахаридоз VI типа, ферментзаместительная терапия, синдром запястного канала, электромиография, дистальная латентность М-ответа
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Relation: https://nmb.abvpress.ru/jour/article/view/64/60; Van Meir N., De Smet L. Carpal tunnel syndrome in children. J Pediatr Orthop B 2005;14(1):42–5.; Кузенкова Л.М., Подклетнова Т.В. Неврологические аспекты мукополисахаридозов. Труды II Национального конгресса «Неотложные состояния в неврологии» (под. ред. З.А. Суслиной, М.А. Пирадова). Москва, 2011. С. 158–163.; Yuen A., Dowling G., Johnstone B. et al. Carpal tunnel syndrome in children with mucopolysaccaridoses. J Child Neurol 2007; 2(3):260–3.; Haddad F.S., Jones D.H., Vellodi A. et al. Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. J. Bone Joint Surg. Br. 1997;79(4):576–582.; Van Heest A.E., House J., Krivit W., Walker K. Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. J Hand Surg Am 1998;23(2):236–43.; Katirji B. Electromyography in clinical practice. Philadelphia: MOSBY Elsevier, 2007. 417 p.; Meyer-Marcotty M.V., Kollewe K., Dengler R. et al. Carpal tunnel syndrome in children with mucopolysaccharidosis type 1H: diagnosis and therapy in an interdisciplinary centre. Handchir Mikrochir Plast Chir 2012;44(1):23–8.; White K., Kim T., Neufeld J.A. Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010;3(1):57–62.; Muenzer J., Beck M., Eng C.M. et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009;124(6): e1228–39.; Kimura J. Electrodiagnosis in Diseases of Nerve and Muscle: Principles and Practice. New York: Oxford University Press, 2013. 1146 p.; Van Meir N., De Smet L. Carpal tunnel syndrome in children. Acta Orthop Belg 2003;69(5):387–95.; Kwon J.Y., Ko K., Sohn Y.B. et al. High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). Am J Med Genet A 2011;155A(6):1329–35.; Norman-Taylor F., Fixsen J.A., Sharrard W.J. Hunter's syndrome as a cause of childhood carpal tunnel syndrome: a report of three cases. J Pediatr Orthop B 1995;4(1): 106–9.; Daube J.R. Nerve conduction studies. In book: Electrodiagnosis in Clinical Neurology (ed. M.J. Aminoff). Philadelphia: Churchill Livingstone Elsevier, 2005. P. 285–320.; https://nmb.abvpress.ru/jour/article/view/64
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3Academic Journal
Authors: N. V. Buchinskaya, I. А. Chikova, E. А. Isupova, О. V. Kalashnikova, М. М. Kostik, V. G. Chasnyk, Н. В. Бучинская, И. А. Чикова, Е. А. Исупова, О. В. Калашникова, М. М. Костик, В. Г. Часнык
Source: Current Pediatrics; Том 13, № 3 (2014); 35-43 ; Вопросы современной педиатрии; Том 13, № 3 (2014); 35-43 ; 1682-5535 ; 1682-5527
Subject Terms: имплантируемые венозные порт-системы, enzyme replacement therapy, implantable venous port systems, ферментзаместительная терапия
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Relation: https://vsp.spr-journal.ru/jour/article/view/190/116; https://vsp.spr-journal.ru/jour/article/view/190/117; Tolar J., Grewal S. S., Bjoraker K. J., Whitley C. B., Shapiro E. G., Charnas L., Orchard P. J. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant. 2008; 41: 531–535.; D’Aco K., Underhill L., Rangachari L., Arn P., Cox G. F., Giugliani R., Okuyama T., Wijburg F., Kaplan P. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur. J. Pediatr. 2012; 171: 911–919.; Platt F. M., Neises G. R., Reinkensmeier G., Townsend M. J., Perry V. H., Proia R. L., Winchester B., Dwek R. A., Butters T. D. Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science. 1997; 276: 428–431.; Jeyakumar M., Butters T. D., Cortina-Borja M., Hunnam V., Proia R. L., Perry V. H., Dwek R. A., Platt F. M. Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proceed. Nat. Acad. Sci. USA. 1999; 96: 6388–6393.; Andersson U., Smith D., Jeyakumar M., Butters T. D., Borja M. C., Dwek R. A., Platt F. M. Improved outcome of N-butyldeoxyga lactonojirimycin- mediated substrate reduction therapy in a mouse model of Sandhoff disease. Neurobiol. Dis. 2004; 16: 506–515.; Cox T., Lachmann R., Hollak C., Aerts J., Van Weely S., Hrebi cek M., Platt F., Butters T., Dwek R., Moyses C., Gow I., Elstein D., Zimran A. Novel oral treatment of Gaucher’s disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet. 2000; 355: 1481–1485.; Piotrowska E., Jakobkiewicz-Banecka J., Baranska S., TylkiSzymanska A., Czartoryska B., Wegrzyn A., Wegrzyn G. Genisteinmediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur. J. Hum. Genet. 2006; 14 (7): 846–852.; Kingma S. P., Wagemans T., Lilst L., Wijburq F. A., van Vlies N. Genistein increases glycosaminoglycan levels in mucopoly saccha ridosis type I cell models. J. Inherit. Metab. Dis. 2014; in press.; Kim K. H., Dodsworth C., Paras A., Burton B. K. High dose genistein aglycone therapy is safe in patients with mucopoly saccharidoses involving the central nervous system. Mol. Genet. Metab. 2013; 109 (4): 382–385.; Di Ferrante N., Nichols B. L., Knudson A. G., McCredie K. B., Singh J., Donnelly P. V. Mucopolysaccharide-storage diseases: corrective activity of normal human serum and lymphocyte extracts. Birth Defects. Orig. Article Ser. 1973; 9: 31–40.; Fratantoni J. C., Hall C. W., Neufeld E. F. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science. 1968; 162: 570–572.; Wiesmann U. N., Rossi E. E., Herschkowitz N. N. Treatment of metachromatic leukodystrophy in fibroblasts by enzyme replacement. New Engl. J. Med. 1971; 284: 672–673.; Kihara H., Porter M. T., Fluharty A. L. Enzyme replacement in cultured fibroblasts from metachromatic leukodystrophy. Birth Defects. Orig. Article Ser. 1973; 9: 19–26.; Church H., Tylee K., Cooper A., Thornley M., Mercer J., Wraith E., Carr T., O'Meara A., Wynn R. F. Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease. Bone Marrow Transplant. 2007; 39: 207–210.; Souillet G., Guffon N., Maire I., Pujol M., Taylor P., Sevin F., Bleyzac N., Mulier C., Durin A., Kebaili K., Galambrun C., Bertrand Y., Froissart R., Dorche C., Gebuhrer L., Garin C., Berard J., Guibaud P. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant. 2003; 31: 1105–1117.; Vellodi A., Young E. P., Cooper A., Wraith J. E., Winchester B., Meaney C., Ramaswami U., Will A. bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch. Dis. Childhood. 1997; 76: 92–99.; Peters C., Shapiro E. G., Anderson J., Henslee-Downey P. J., Klemperer M. R., Cowan M. J., Saunders E. F., deAlarcon P. A., Twist C., Nachman J. B., Hale G. A., Harris R. E., Rozans M. K., Kurtzberg J., Grayson G. H., Williams T. E., Lenarsky C., Wagner J. E., Krivit W. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood. 1998; 91: 2601–2608.; Vellodi A., Young E., Cooper A., Lidchi V., Winchester B., Wraith J. E. Long-term follow-up following bone marrow transplantation for Hunter disease. J. Inherit. Metab. Dis. 1999; 22 (5): 638–648.; Valayannopoulos V., Wijburg F. A. Therapy for the mucopolysaccha ridoses. Rheumatology (Oxford). 2011; 50 (Suppl. 5): 49–59.; O’Brien J. S., Miller A. L., Loverde A. W., Veath M. L. Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts. Science. 1973; 181: 753–755.; Desnick R. J., Schuchman E. H. Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu Rev. Genomics Hum. Genet. 2012; 13: 307–335. Doi:10.1146/annurev-genom-090711-163739.; Vera M., Le S., Kan S. H., Garban H., Naylor D., Mlikotic A., Kaitila I., Harmatz P., Chen A., Dickson P. Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients. Pediatr. Res. 2013; 74 (6): 712–720.; Ehlert K., Frosch M., Fehse N., Zander A., Roth J., Vormoor J. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr. Rheum. Online J. 2007; 5: 15.; Simonaro C., Frohberg M., Ge Y., Menq F., Schuchman E. A 63: treatment of arthritis in animal models of the mucopolysaccharidoses using a novel anti-inflammatory drug, pentosan polysulfate. Arthritis Rheum. 2014; 66 (Suppl. 11): 93.; Ortolano S., Vieitez I., Navarro C., Spuch C. Treatment of lysosomal storage diseases: recent patents and future strategies. Rec. Pat. Endocr. Metab. Immune Drug Discov. 2014; 8 (1): 9–25.; Baldo G., Giuqliani R., Matte U. Gene delivery strategies for the treatment of mucopolysaccharidoses. Exp. Opin. Deliv. 2014; 11 (3): 449–59.; Tardieu M., Zerah M., Husson B., de Bournonville S., Deiva K., Adamsbaum C., Vincent F., Hocquemiller M., Broissand C., Furlan V., Ballabio A., Fraldi A., Crystal R., Baugnon T., Roujeau T., Heard J. M., Danos O. Intracerebrae administration of AAVrh 10 carrying human SGSH and SUMF1 cDNAs in children with MPS IIIA disease: results of a phase I/II trial. Hum. Gene Ther. 2014; in press.; Sanford M., Lo J. H. Esosulfase alfa: first global approval. Drugs. 2014; in press.; Kornfeld S. Lysosomal enzyme targeting. Biochem. Soc. Trans. 1990; 18 (3): 367–374.; Brands M. M., Hoogeveen-Westerveld M., Kroos M. A., Nobel W., Ruijter G. J., Ozkan L., Plug I., Grinberg D., Vilageliu L., Halley D. J., van der Ploeg Ans T., Reuser A. J. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. Orphanet. J. Rare Dis. 2013; 8: 51.; Barbier A. J., Bielefeld B., Whiteman D. A., Natarajan M., Pano A., Amato D. A. The relationship between anti-idursulfatase antibody status and safety and efficacy outcomes in attenuated muco poly saccha ridosis II patients aged 5 years and older treated with intravenous idursulfase. Mol. Genet. Metab. 2013; 110 (3): 303–310.; Muenzer J. Overview of the mucopolysaccharidoses. Rheuma tology (Oxford). 2011; 50 (Suppl. 5): 4–12.
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4Academic Journal
Authors: Бучинская, Наталья, Чикова, И., Исупова, Е., Калашникова, О., Костик, М., Часнык, В.
Subject Terms: МУКОПОЛИСАХАРИДОЗ, ФЕРМЕНТЗАМЕСТИТЕЛЬНАЯ ТЕРАПИЯ, ИМПЛАНТИРУЕМЫЕ ВЕНОЗНЫЕ ПОРТ-СИСТЕМЫ
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5Academic Journal
Authors: Куренков, А., Подклетнова, Т., Кузенкова, Л., Бурсагова, Б., Никитин, С., Геворкян, А., Вашакмадзе, Н.
Subject Terms: МУКОПОЛИСАХАРИДОЗ I–IV ТИПОВ, МУКОПОЛИСАХАРИДОЗ VI ТИПА, ФЕРМЕНТЗАМЕСТИТЕЛЬНАЯ ТЕРАПИЯ, СИНДРОМ ЗАПЯСТНОГО КАНАЛА, ЭЛЕКТРОМИОГРАФИЯ, ДИСТАЛЬНАЯ ЛАТЕНТНОСТЬ М-ОТВЕТА, СКОРОСТЬ РАСПРОСТРАНЕНИЯ ВОЗБУЖДЕНИЯ ПО ПЕРИФЕРИЧЕСКОМУ НЕРВУ, ХИРУРГИЧЕСКАЯ ДЕКОМПРЕССИЯ СРЕДИННОГО НЕРВА, КАЧЕСТВО ЖИЗНИ
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6Academic Journal
Source: Вопросы современной педиатрии.
Subject Terms: 0301 basic medicine, 0303 health sciences, 03 medical and health sciences, МУКОПОЛИСАХАРИДОЗ, ФЕРМЕНТЗАМЕСТИТЕЛЬНАЯ ТЕРАПИЯ, ИМПЛАНТИРУЕМЫЕ ВЕНОЗНЫЕ ПОРТ-СИСТЕМЫ, 3. Good health
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7Academic Journal
Source: Нервно-мышечные болезни.
Subject Terms: МУКОПОЛИСАХАРИДОЗ I–IV ТИПОВ, МУКОПОЛИСАХАРИДОЗ VI ТИПА, ФЕРМЕНТЗАМЕСТИТЕЛЬНАЯ ТЕРАПИЯ, СИНДРОМ ЗАПЯСТНОГО КАНАЛА, ЭЛЕКТРОМИОГРАФИЯ, ДИСТАЛЬНАЯ ЛАТЕНТНОСТЬ М-ОТВЕТА, СКОРОСТЬ РАСПРОСТРАНЕНИЯ ВОЗБУЖДЕНИЯ ПО ПЕРИФЕРИЧЕСКОМУ НЕРВУ, ХИРУРГИЧЕСКАЯ ДЕКОМПРЕССИЯ СРЕДИННОГО НЕРВА, КАЧЕСТВО ЖИЗНИ, 3. Good health
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