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1Academic Journal
Συγγραφείς: Dmitry V. Ivanov, Anna I. Ostrun, Vladimir M. Kenis, Tatiana V. Markova, Ekaterina Yu. Zakharova, Д. В. Иванов, А. И. Острун, В. М. Кенис, Т. В. Маркова, Е. Ю. Захарова
Πηγή: Current Pediatrics; Том 20, № 6s (2021); 602-610 ; Вопросы современной педиатрии; Том 20, № 6s (2021); 602-610 ; 1682-5535 ; 1682-5527
Θεματικοί όροι: клинический случай, Maroteaux–Lamy syndrome, early diagnosis, enzyme replacement therapy, galsulfase, clinical case, синдром Марото–Лами, ранняя диагностика, ферментная заместительная терапия, галсульфаза
Περιγραφή αρχείου: application/pdf
Relation: https://vsp.spr-journal.ru/jour/article/view/2776/1108; Garrido E, Cormand B, Hopwood JJ, et al. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Mol Genet Metab. 2008;94(3):305–312. doi:10.1016/j.ymgme.2008.02.012; Bhattacharyya S, Tobacman JK. Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation. Clin Exp Metastasis. 2009;26(6):535–545. doi:10.1007/s10585-009-9253-z; Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5. doi:10.1186/1750-1172-5-5; Giugliani R. The mucopolysaccharidoses. In: Lysosomal storage siseases: a practical guide. Mehta AB, Winchester B, eds. Hoboken, NJ: Wiley-Blackwell; 2013. pp. 94–100.; Wood T, Bodamer OA, Burin MG, et al. Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012; 106(1):73–82. doi:10.1016/j.ymgme.2012.02.005; Vairo F, Federhen A, Baldo G, et al. Diagnostic and treatment strategies in mucopolysaccharidosis VI. Appl Clin Genet. 2015; 8:245–255. doi:10.2147/TACG.S68650; Fernandez-Marmiesse A, Morey M, Pineda M, et al. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. Orphanet J Rare Dis. 2014;9:59. doi:10.1186/1750-1172-9-59; Hopwood JJ, Bate G, Kirkpatrick P. Galsulfase. Nat Rev Drug Discov. 2006;5(2):101–102. doi:10.1038/nrd1962; Giugliani R, Herber S, Lapagesse L, et al. Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects. Pediatr Endocrinol Rev. 2014;12(Suppl 1): 152–158.; World Health Organization. Standards: Length/height-for-age. Available online: https://www.who.int/tools/child-growth-standards/standards/length-height-for-age. Accessed on 01.12.2021.; Audroin C, Lejeune F, Gaudelus J, et al. Alder’s anomaly in mucopolysaccharidosis type VI. Cytological, cytochemical and ultrastructural study. Nouv Rev Fr Hematol. 1985; 27(3):183–188.; Krishnagiri C, Ajanahalli RR, Kashyap S, et al. Abnormal granulation of blood granulocytes in mucopolysaccharidosis VI-a case report. Ann Diagn Pathol. 2013;17(1):137–139. doi:10.1016/j.anndiagpath.2011.07.009; Piva E, Pelloso M, Ciubotaru D, et al. The role of automated analyzers in detecting abnormal granulation of leucocytes in lysosomal storage diseases: Maroteaux-Lamy disease. Am J Hematol. 2013;88(6):527. doi:10.1002/ajh.23377; Harmatz P, Shediac R. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed). 2017;22:385–406. doi:10.2741/4490; Мукополисахаридоз VI типа у детей: клинические рекомендации / Союз педиатров России. — М.; 2016. Доступно по: https://legalacts.ru/doc/klinicheskie-rekomendatsii-mukopolisakharid. Ссылка активна на 25.11.2021.; Воинова В.Ю., Семячкина А.Н., Воскобоева Е.Ю. и др. Мукополисахаридоз VI типа (синдром Марото-Лами): клинические проявления, диагностика и лечение // Российский вестник перинатологии и педиатрии. — 2014. — Т. 59. — № 4 (прил.). — C. 2–23.; Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A. 2005;134A(2): 144–150. doi:10.1002/ajmg.a.30579; Jurecka A, Zakharova E, Cimbalistiene L, et al. Muco polysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. Pediatr Int. 2014;56(4):520–525.; Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr. 2006;148(4):533–539. doi:10.1016/j.jpeds.2005.12.014; Harmatz P, Giugliani R, Schwartz IV, et al. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab. 2008;94(4):469–475. doi:10.1016/j.ymgme.2008.04.001; Giugliani R, Lampe C, Guffon N, et al. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) — 10-year follow-up of patients who previously participated in an MPS VI Survey Study. Am J Med Genet A. 2014;164A(8):1953–1964.; Harmatz P, Hendriksz CJ, Lampe C, et al. The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Mol Genet Metab. 2017;122(1–2):107–112.; Horovitz DD, Magalhaes TS, Acosta A, et al. Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI. Mol Genet Metab. 2013;109(1):62–69. doi:10.1016/j.ymgme.2013.02.014; McGill JJ, Inwood AC, Coman DJ, et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. Clin Genet. 2010;77(5):492–498. doi:10.1111/j.1399-0004.2009.01324.x; Horovitz DDG, Acosta AX, de Rosso Giuliani L, Ribeiro EM. Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. Mol Genet Metab Rep. 2015;5:19–25. doi:10.1016/j.ymgmr.2015.09.002; Scarpa M, Barone R, Fiumara A, et al. Mucopolysaccharidosis VI: the Italian experience. Eur J Pediatr. 2009;168(10): 1203–1206. doi:10.1007/s00431-008-0910-z; Pitz S, Ogun O, Arash L, et al. Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis? Graefes Arch Clin Exp Ophthalmol. 2009;247(7):975–980.
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2Academic Journal
Συγγραφείς: В. Ю. Воинова, А. Н. Семячкина, Е. Ю. Воскобоева, П. В. Новиков, Е. Ю. Захарова
Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); № 4 (2014): Приложение; 2-23 ; Российский вестник перинатологии и педиатрии; № 4 (2014): Приложение; 2-23 ; 2500-2228 ; 1027-4065 ; undefined
Θεματικοί όροι: Наглазим, мукополисахаридоз, синдром Марото—Лами, клинические проявления, диагностика, ферментозамещающая терапия
Περιγραφή αρχείου: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/67/111; Maroteaux P., Leve^que B., Marie J., Lamy M. A new dysostosis with urinary elimination of chondroitin sulfate B. Presse Med 1963; 71: 1849–1852.; Neufeld E., Muenzer J. The mucopolysaccharidoses. In: Scriver C., Beaudet A., Valle D., Sly W. (eds).The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001: 3421–3452.; Baehner F., Schmiedeskamp C., Krummenauer F. et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005; 28: 1011–1017.; Swiedler S., Beck M., Bajbouj M. et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet 2005; 134: 144–150.; Karageorgos L., Brooks D.A., Pollard A. et al. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat 2007; 28: 9: 897–903.; Voskoboeva E., Isbrandt D., von Figura K. et al. Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Hum Genet 1994; 93: 3: 259–264.; Karageorgos L., Brooks D., Harmatz P. et al. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. Mol Genet Metab 2007; 90: 164–170.; Bradford T.M., Litjens T., Parkinson E.J. et al. Mucopolysaccharidosis type VI (Maroteaux- Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine-sulfatase at multiple points in the vacuolar network. Biochemistry 2002; 41: 4962–4971.; Strauch O.F., Stypmann J., Reinheckel T. et al. Cardiac and ocular pathologies in a mouse model of mucopolysaccharidosis type VI. Pediat Res 2003; 54: 701–708.; Семячкина А.Н., Новиков П.В. Клинические проявления, лечение и социальная адаптация детей с мукополисахаридозами. Вопр соврем педиат 2004; 6: 20–24. (Syemyachkina A.N., Novikov P.V. Clinical manifestations, treatment and social adaptation of children with MPS. Vopr sovryem pediatr 2004; 6: 20–24.); Giugliani R., Harmatz P., Wraith J.E. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007; 120: 405–418.; Simmons M.A., Bruce I.A., Penney S. et al. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediat Otorhinolaryngol 2005; 69: 589–596.; Semenza G., Pyeritz R. Respiratory complications of mucopolysaccharide storage disorders. Medicine (Baltimore) 1988; 67: 209–219.; Oudit G.Y., Butany J., Williams W.G. et al. Images in cardiovascular medicine. Left ventricular aneurysm associated with mucopolysaccharidosis type VI syndrome (Maroteaux- Lamy syndrome). Circulation 2007; 115: 60–62.; Azevedo A.C., Schwartz I.V., Kalakun L. et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet 2004; 66: 208–213.; Ashworth J.L., Biswas S., Wraith E., Lloyd I.C. The ocular features of the mucopolysaccharidoses. Eye 2006; 20: 553–563.; 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 1998; 23: 236–243.; Schwartz G.P., Cohen E.J. Hydrocephalus in Maroteaux-Lamy syndrome. Arch Ophthalmol 1998; 116: 400.; Mut M., Cila A., Varli K., Akalan N. Multilevel myelopathy in Maroteaux-Lamy syndrome and review of the literature. Clin Neurol Neurosurg 2005; 107: 230–235.; Boor R., Miebach E., Bruhl K., Beck M. Abnormal somatosensory evoked potentials indicate compressive cervical myelopathy in mucopolysaccharidoses. Neuropediatrics 2000; 31: 122–127.; Albano L., Sugayama S., Bertola D. et al. Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. Rev Hosp Clin Fac Med Sao Paulo 2000; 55: 213–218.; Whitley C.B., Ridnour M.D., Draper K.A. et al. Diagnostic test for mucopolysaccharidosis. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin Chem 1989; 35: 374–379.; Hein L., Meikle P., Dean C. et al. Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots. Clin Chim Acta 2005; 353: 67–74.; Brooks D.A., Gibson G.J., Karageorgos L. et al. An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum. Mol Genet Metab 2005; 85: 236–238.; Dierks T., Dickmanns A., Preusser-Kunze A. et al. Molecular basis for multiple sulfatase deficiency and catalytic mechanism for formylglycine generation of the human formylglycine- generating enzyme. Cell 2005; 121: 541–552.; Karageorgos L., Brooks D.A., Pollar A. et al. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat 2007; 28: 897–903.; Petry M.F., Nonemacher K., Sebben J.C. et al. Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. J Inherit Metab Dis 2005; 28: 1027–1034.; Voskoboeva E.Iu., Krasnopol'skaia K.D., Peters K., von Figura K. Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients. Genetika 2000; 36: 6: 837–843.; Auclair D., Hopwood J.J., Brooks D.A. et al. Replacement therapy in mucopolysaccharidosis type VI: ad-vantages of early onset of therapy. Mol Genet Metab 2003; 78: 163–174.; Harmatz P., Whitley C. , Waber L. et al. Enzyme replacement therapy in mucopolysac charidosis VI (Maroteaux-Lamy syndrome). J Pediat 2004; 144: 574–580.; Braunlin E., Rosenfeld H., Kampmann C. et al. MPS VI Study Group. Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. J Inherit Metab Dis 2013; 36: 2: 385–394.; Harmatz P., Ketteridge D., Giugliani R. et al. Direct comparison of measures of endurance, mobility, and joint function during enzymereplacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetyl-galactosamine-4-sulfatase. Pediatrics 2005; 115: 6: e681–689.; Sillence D., Waters K., Donaldson S. et al. Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI. JIMD Rep 2012; 2: 103–106.; Peters C., Steward C. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003; 31: 229–239.; Staba S., Escolar M., Poe M. et al. Cord-blood transplants from unrelated donors in patients with Hurler’s syndrome. N Engl J Med 2004; 350: 1960–1969.; Lee V., Li C.K., Shing M.M. et al. Umbilical cord blood transplantation for Maroteaux- Lamy syndrome (mucopolysaccharidosis type VI). Bone Marrow Transplant 2000; 26: 4: 455–458.; Jester S., Larsson J., Eklund E.A. et al. Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome. Orphanet J Rare Dis 2013; 8: 134. doi:10.1186/1750–1172–8–134.; Walker R., Allen D., Rothera M. A fibreoptic intubation tech-nique for children with mucopolysaccharidoses using the laryngeal mask airway. Paediatr Anaesth 1997; 7: 421–426.; undefined
Διαθεσιμότητα: https://www.ped-perinatology.ru/jour/article/view/67
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3Academic Journal
Συγγραφείς: С.С. Ибатова, Т.Т. Керимбаев, Г.Н. Касенова
Θεματικοί όροι: мукополисахаридоз VI типа, синдром Марото-Лами, глюкозамингликан, арилсульфатаза В, галсульфаза, дети
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4Academic Journal
Συγγραφείς: Бучинская, Н., Костик, М., Чикова, И., Исупова, Е., Калашникова, О., Часнык, В., Губин, Александр, Рябых, Сергей, Очирова, Полина
Θεματικοί όροι: МУКОПОЛИСАХАРИДОЗ, СИНДРОМ ГУРЛЕРА, СИНДРОМ ГУРЛЕРА-ШЕЙЕ, СИНДРОМ ШЕЙЕ, БОЛЕЗНЬ ХАНТЕРА, СИНДРОМ САНФИЛИППО, СИНДРОМ МОРКИО, СИНДРОМ МАРОТО-ЛАМИ, ДЕФИЦИТ ГИАЛУРОНИДАЗЫ
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5Academic Journal
Πηγή: Журнал «Нейрохирургия и неврология Казахстана».
Θεματικοί όροι: мукополисахаридоз VI типа, синдром Марото-Лами, глюкозамингликан, арилсульфатаза В, галсульфаза, дети, 3. Good health
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6Academic Journal
Πηγή: Гений ортопедии.
Θεματικοί όροι: МУКОПОЛИСАХАРИДОЗ, СИНДРОМ ГУРЛЕРА, СИНДРОМ ГУРЛЕРА-ШЕЙЕ, СИНДРОМ ШЕЙЕ, БОЛЕЗНЬ ХАНТЕРА, СИНДРОМ САНФИЛИППО, СИНДРОМ МОРКИО, СИНДРОМ МАРОТО-ЛАМИ, ДЕФИЦИТ ГИАЛУРОНИДАЗЫ, 3. Good health
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