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1Academic Journal
Authors: Yagmur, V.B.
Source: Gastroenterologìa, Vol 49, Iss 3.57, Pp 147-152 (2015)
GASTROENTEROLOGY; № 3.57 (2015); 147-152
Гастроэнтерология-Gastroenterologìa; № 3.57 (2015); 147-152
Гастроентерологія-Gastroenterologìa; № 3.57 (2015); 147-152Subject Terms: Gaucher's disease, glucocerebrosidase, RC799-869, Diseases of the digestive system. Gastroenterology, болезнь Гоше, глюкоцереброзидаза, генетика, ферментозамещающая терапия, 7. Clean energy, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, 13. Climate action, хвороба Гоше, ферментозамісна терапія, genetics, enzyme replacement therapy
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2Academic Journal
Authors: P. V. Novikov, П. В. Новиков
Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 59, № 4 (2014); 4-9 ; Российский вестник перинатологии и педиатрии; Том 59, № 4 (2014); 4-9 ; 2500-2228 ; 1027-4065 ; undefined
Subject Terms: профилактика, lysosomal storage diseases, mucopolysaccharidoses, mucolipidoses, sphingolipidoses, genetically engineered agents, enzyme replacement therapy, prevention, лизосомные болезни накопления, мукополисахаридозы, муколипидозы, сфинголипидозы, генно-инженерные препараты, ферментозамещающая терапия
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Relation: https://www.ped-perinatology.ru/jour/article/view/46/87; http://www.ncbi.nlm.nih.gov/Omim/; Saudubray J.M., Ogier de Baulny H., Charpentier C. Clicnical approach to inherited metabolic diseases. In: J. Fernandes, J.M. Saudubray, G. Van den Bergue (eds.). Inborn metabolic diseases. Diagnosis and treatment. 3th edition. Berlin: Springer—Verlag 2000; 3—41.; Tomatsu S., Fujii T., Fukushi M. et al. Newborn screening and diagnosis of mucopolysaccharidoses. Mol Gene Metab 2013; 110: 1—2: 42—53.; Новиков П.В., Семячкина А.Н. Лизосомные болезни накопления. В кн.: Основы внутренней медицины. Под ред. В.С. Моисеева. М: ГЭОТАР-Медиа 2014; 780— 792.(Novikov P.V., Semyachkina А.N. Lysosomaldiseases. In: Internal medicine basis. V.S. Moiseev (ed.). Moscow: GEHOTАR-Media 2014; 780—792.); Wraith J.E. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 1995; 72: 263—267.; www.orpha.net; Воскобоева Е.Ю. Характеристика мутантных аллелей при наследственных мукополисахаридозах. Актуальные проблемы диагностики, лечения и профилактики наследственных заболеваний у детей. Тезисы докладов. М 1998; 14—15. (Voskoboeva E.YU. Characteristics of mutant alleles in mucopolysaccharidoses.Current problems of diagnostics. treatment and prophylaxis of inborn errors of metabolism in children. Moscow 1998; 14—15.); Muenzer J., Beck M., Eng C.M. et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009; 124: e1228—e1239.; Ellinwood N.M., Vite C.H., Haskins M.E. Gene therapy for lysosomal storage diseases: the lessons and promise of animal models. J Gene Med 2004; 6: 481—506.; undefined
Availability: https://www.ped-perinatology.ru/jour/article/view/46
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3Academic Journal
Source: 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
Subject Terms: Наглазим, мукополисахаридоз, синдром Марото—Лами, клинические проявления, диагностика, ферментозамещающая терапия
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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
Availability: https://www.ped-perinatology.ru/jour/article/view/67
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4Academic Journal
Authors: ЯГМУР В.Б.
Subject Terms: хвороба Гоше, глюкоцереброзидаза, генетика, ферментозамісна терапія, болезнь Гоше, генети- ка, ферментозамещающая терапия
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5Academic Journal
Source: Гастроентерологiя.
Subject Terms: хвороба Гоше, глюкоцереброзидаза, генетика, ферментозамісна терапія, болезнь Гоше, глюкоцереброзидаза, генети- ка, ферментозамещающая терапия, 3. Good health
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6Electronic Resource
Additional Titles: Болезнь Гоше (Современный взгляд на проблему)
Хвороба Гоше (сучасний погляд на проблему)Source: GASTROENTEROLOGY; № 3.57 (2015); 147-152; Гастроэнтерология - Gastroenterologìa; Гастроентерологія - Gastroenterologìa; 2518-7880; 2308-2097
Index Terms: Gaucher’s disease, glucocerebrosidase, genetics, enzyme replacement therapy, болезнь Гоше, глюкоцереброзидаза, генетика, ферментозамещающая терапия, хвороба Гоше, ферментозамісна терапія, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion
