المؤلفون: N. D. Vashakmadze, L. S. Namazova-Baranova, A. K. Gevorkyan, L. M. Kuzenkova, T. V. Podkletnova, M. A. Babaikina, A. V. Anikin, G. V. Kuznetsova, L. A. Osipova, Н. Д. Вашакмадзе, Л. С. Намазова-Баранова, А. К. Геворкян, Л. М. Кузенкова, Т. В. Подклетнова, М. А. Бабайкина, А. В. Аникин, Г. В. Кузнецова, Л. А. Осипова

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 61, № 4 (2016); 114-120 ; Российский вестник перинатологии и педиатрии; Том 61, № 4 (2016); 114-120 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2017-4-4

مصطلحات موضوعية: миелопатия, mucopolysaccharidosis type I, articular syndrome, hip dysplasia, dysostosis, myelopathy, мукополисахаридоз I типа, суставной синдром, дисплазия тазобедренного сустава, дизостоз

وصف الملف: application/pdf

العلاقة: https://www.ped-perinatology.ru/jour/article/view/363/392Test; Neufeld E. F., Muenzer J. The mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease. C. Scriver et al. (eds). New York: McGraw Hill, 2001; 3421–3452.; Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004; 144: S27–34.; Харрисон Т. Р. Внутренние болезни в 10 книгах. Кн. 8. Лизосомные болезни накопления: 250–273 (Harrison T. R. Internal medicine 10 books, b. 8. Lysosomal storage disease accumulation: 250–273.); White K. K. Orthopaedic aspects of mucopolysaccharidoses. Rheumatol 2011; 50: Suppl 5: 26–33.; Piraud M., Boyer S., Mathieu M., Maire I. Diagnosis of mucopolysaccharidosesin a clinically selected population by urinary glycosaminoglycananalysis: a study of 2,000 urine samples. Clin Chim Acta 1993; 221: 171–181.; Vijay S., Wraith J. E. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr 2005; 94: 872–877.; Pastores G. M., Arn P., Beck M. et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007; 91: 37–47.; Bodamer O. A. Clinical characteristics of MPS I Regystry. Amer Soc Hum Genet. San Diego: California, 2007; http://www.ashg.org/genetics/ashg07s/index.shtmlTest; Field R. E., Buchanan J. A., Copplemans M. G. et al. Bone-marrow transplantation in Hurler’s syndrome. Effect on skeletal development. J Bone Joint Surg Br 1994; 76: 975–981.; Breider M. A., Shull R. M., Constantopoulos G. Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I. Am J Pathol 1989; 134: 677–692.; Russell C., Hendson G., Jevon G. et al. Murine MPS I: insights into the pathogenesis of Hurler syndrome. Clin Genet 1998; 53: 349–361.; Chen S. J., Li Y. W., Wang T. R. et al. Bony changes in common mucopolysaccharidoses. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996; 37: 178–184.; Polgreen L. E., Miller B. S. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010; 3: 25–38.; Simonaro C. M., D’Angelo M., Haskins M. E. et al. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr Res 2005; 57: 5: Pt 1: 701–707.; 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.; Бучинская Н. В., Костик М. М., Чикова И. А. и др. Скелетные проявления при мукополисахаридозах разных типов. Гении Ортопедии. 2014; 2: 81–90. (Buchinskaya N. V., Kostik M. M., Chikova I. A. et. al. Skeletal manifestations in the mucopolysaccharidoses of various types. Genius Of Orthopedics. 2014; 2: 81–90.); White K. K. Orthopaedic aspects of mucopolysaccharidoses. Rhematol 2011; 50: Suppl 5: 26–33.; Tandon V., Williamson J. B., Cowie R. A. et al. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br 1996; 78: 938–944.; Weisstein J. S., Delgado E., Steinbach L. S. et al. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop 2004; 24: 97–101.; Wraith J. E., Clarke L. A., Beck M. et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, doubleblinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144: 581– 588.; White K. K., Harmatz P. Orthopedic management of mucopolysaccharide disease. J Pediatr Rehabil Med 2010; 3: 1: 47–56.; Taylor C., Brady P., O’Meara A. et al. Mobility in Hurler syndrome. J Pediatr Orthop 2008; 28: 2: 163–168.; Атлас редких болезней. Под редакцией А. А. Баранова, Л. С. Намазовой-Барановой. Москва. Педиатръ. (Atlas of rare diseases. Edited by A. A. Baranov, L. S. Namazova- Baranova. Moscow. Pediatr. 2013; 304.); Cimaz R., Coppa G. V., Koné-Paut I. et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol 2009; 7: 18: doi:10.1186/1546– 0096–7–18; Manger B. Rheumatological manifestations are key in the early diagnosis of mucopolysaccharidosis type I. Europ Musculoskeletal Rev 2008; 1–6.; Sifuentes M., Doroshow R., Hoft R. et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007; 90: 171–180.; Clarke L. A., Wraith J. E., Beck M. et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009; 123: 229–240.; Kakkis E. D., Muenzer J., Tiller G. E. et al. Enzyme-replacement therapy in mucopolysaccharidosis I. 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الإتاحة: https://doi.org/10.21508/1027-4065-2016-61-4-114-12010.21508/1027-4065-2017-4-410.1186/1546Test
https://www.ped-perinatology.ru/jour/article/view/363Test

المؤلفون: Gabrielli, O, Clarke, La, Ficcadenti, A, SANTORO, LUCA, Zampini, L, VOLPI, Nicola, Coppa, G.v.

المساهمون: Gabrielli, O, Clarke, La, Ficcadenti, A, Santoro, Luca, Zampini, L, Volpi, Nicola, Coppa, G. v.

مصطلحات موضوعية: Attenuated Mucopolysaccharidosis type I, Enzyme replacement therapy, laronidase, α-L-iduronidase

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26965916; info:eu-repo/semantics/altIdentifier/wos/WOS:000371974100001; volume:17; issue:1; firstpage:19; lastpage:25; numberofpages:7; journal:BMC MEDICAL GENETICS; http://hdl.handle.net/11380/1110789Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84960348153

الإتاحة: https://doi.org/10.1186/s12881-016-0284-4Test
http://hdl.handle.net/11380/1110789Test

المؤلفون: Laraway, Sarah, Mercer, Jean, Jameson, Elisabeth, Ashworth, Jane, Hensman, Pauline, Jones, Simon A.

المصدر: Laraway , S , Mercer , J , Jameson , E , Ashworth , J , Hensman , P & Jones , S A 2016 , ' Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I ' , Journal Of Pediatrics , vol. 178 , pp. 219-226.e1 . https://doi.org/10.1016/j.jpeds.2016.08.033Test

مصطلحات موضوعية: enzyme replacement therapy, laronidase, MPS I, mucopolysaccharidosis type I

الإتاحة: https://doi.org/10.1016/j.jpeds.2016.08.033Test
https://research.manchester.ac.uk/en/publications/e0edf3b6-5ee0-41a9-82b3-732d25f73392Test
http://www.scopus.com/inward/record.url?scp=84994689594&partnerID=8YFLogxKTest

المؤلفون: Gabrielli, Orazio, Clarke, Lorne A, Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V

المساهمون: Child and Family Research Institute

مصطلحات موضوعية: Attenuated Mucopolysaccharidosis type I, Enzyme replacement therapy, α-L-iduronidase, laronidase

العلاقة: BMC Medical Genetics. 2016 Mar 10;17(1):19; http://hdl.handle.net/2429/65848Test

الإتاحة: http://hdl.handle.net/2429/65848Test

المؤلفون: Abdellah Tebani, Lahouaria Zanoutene-Cheriet, Zoubir Adjtoutah, Lenaig Abily-Donval, Carole Brasse-Lagnel, Annie Laquerrière, Stephane Marret, Abla Chalabi Benabdellah, Soumeya Bekri

المصدر: International Journal of Molecular Sciences; Volume 17; Issue 5; Pages: 743

مصطلحات موضوعية: mucopolysaccharidosis type I, IDUA, GAGs, heparin sulfate, dermatan sulfate

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Biochemistry; https://dx.doi.org/10.3390/ijms17050743Test

الإتاحة: https://doi.org/10.3390/ijms17050743Test

المؤلفون: Alberto Sánchez-Olaso, Gema de Blas, José Luis Andreu, Jesús Jiménez San Emeterio, Domingo Ly-Pen

المصدر: International Journal of Innovative Research in Medical Science. 5:210-216

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, education.field_of_study, business.industry, Population, Enzyme replacement therapy, medicine.disease, nervous system diseases, Mucopolysaccharidosis type I, Cohort, Mucopolysaccharidosis I, medicine, Young adult, Prospective cohort study, education, business, Carpal tunnel syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::006238f691a57b45c82b90ed05129fb8Test
https://doi.org/10.23958/ijirms/vol05-i07/899Test

المصدر: Pediatric Hematology/Oncology and Immunopathology. 19:83-92

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cyclophosphamide, medicine.medical_treatment, Immunology, Hematopoietic stem cell transplantation, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Internal medicine, Immunology and Allergy, Medicine, Cumulative incidence, Hurler syndrome, business.industry, Hematology, Enzyme replacement therapy, medicine.disease, Transplantation, surgical procedures, operative, 030104 developmental biology, Graft-versus-host disease, Oncology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::210b0a00fab720cb3f2d6b8ebf575192Test
https://doi.org/10.24287/1726-1708-2020-19-2-83-92Test

المؤلفون: Christoph-Eckhard Heyde, Anna Völker, Alexander Hofmann, Eckehard Schumann, Nicolas Heinz von der Höh

المصدر: World Neurosurgery. 139:169-174

مصطلحات موضوعية: Hip dysplasia, medicine.medical_specialty, business.industry, Kyphosis, Scoliosis, medicine.disease, Surgery, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Lumbar, 030220 oncology & carcinogenesis, Thoracolumbar kyphosis, Medicine, Neurology (clinical), Lumbar kyphosis, business, Kyphoscoliosis, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6c8c93e2caab050fa0cd6936530789a0Test
https://doi.org/10.1016/j.wneu.2020.04.055Test

المؤلفون: Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Elena J. Voskobaeva, Marina A. Babaikina, Lyudmila M. Mikhaylova

المصدر: Voprosy Sovremennoj Pediatrii, Vol 19, Iss 2, Pp 132-141 (2020)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, hurler-scheie syndrome, business.industry, Mucopolysaccharidosis, Hurler–Scheie syndrome, mucopolysaccharidosis, medicine.disease, RJ1-570, scheie syndrome, Mucopolysaccharidosis type I, Quality of life, Slow progression, Pediatrics, Perinatology and Child Health, diagnostics, Medicine, business, Iduronidase, Scheie syndrome, alpha-l-iduronidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cd6ec0d94320e8b77ed6c9af5d7653fTest
https://doi.org/10.15690/vsp.v19i2.2106Test

المؤلفون: Ozan Ahlat, Michael J. Przybilla, Sarah Kim, Chester B. Whitley, M. Gerard O'Sullivan, Paula Overn, Li Ou, Jeanine Jarnes

المصدر: Mol Ther

مصطلحات موضوعية: Mucopolysaccharidosis I, Transgene, Genetic Vectors, Gene Dosage, Gene Expression, Pharmacology, medicine.disease_cause, Virus, Iduronidase, Mice, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Genome editing, Gene Order, Drug Discovery, Genetics, Animals, Humans, CRISPR, Medicine, Clustered Regularly Interspaced Short Palindromic Repeats, Transgenes, Molecular Biology, 030304 developmental biology, Gene Editing, 0303 health sciences, business.industry, Gene Transfer Techniques, Brain, Genetic Therapy, Dependovirus, Zinc finger nuclease, Enzyme Activation, Disease Models, Animal, Treatment Outcome, Liver, 030220 oncology & carcinogenesis, Toxicity, Molecular Medicine, Original Article, CRISPR-Cas Systems, business, Carcinogenesis, RNA, Guide, Kinetoplastida

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a04226ab14d3dbff85ac267730f2e6e6Test
https://doi.org/10.1016/j.ymthe.2020.03.018Test