المؤلفون: N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin, G. Lina-Granade, C. Plault, C. Mottolese, R. Froissart, A. Fouilhoux

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-20 (2021)

مصطلحات موضوعية: Mucopolysaccharidosis type I-Hurler syndrome, Hematopoietic cell transplantation, Long-term outcomes, Residual disease burden, Depression, Psychosocial function, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/2cacf798ff01406aa0218951d1a1ed06Test

المؤلفون: S. Ya. Volgina, D. I. Sadykova, E. A. Nikolaeva, E. I. Palamarchuk, С. Я. Волгина, Д. И. Садыкова, Е. А. Николаева, Е. И. Паламарчук

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 64, № 5 (2019); 159-164 ; Российский вестник перинатологии и педиатрии; Том 64, № 5 (2019); 159-164 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2019-64-5

مصطلحات موضوعية: трансплантация гемопоэтических стволовых клеток, mucopolysaccharidosis type I (Hurler syndrome), pathogenetic treatment, hematopoietic stem cell transplantation, мукополисахаридоз I типа (синдром Гурлер), патогенетическое лечение

وصف الملف: application/pdf

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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. DOI:10.1038/sj.bmt.1704105; Whitley C.B., Belani K.G., Chang P.N., Summers C.G., Blazar B.R., Tsai M.Y. et al. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet 1993; 46: 209–218. DOI:10.1002/ajmg.1320460222; Braunlin E.A., Stauffer N.R., Peters C.H., Bass J.L., Berry J.M., Hopwood J.J., Krivit W. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2003; 92: 882–886. DOI:10.1016/s0002-9149(03)00909-3; Shapiro E.G., Lockman L.A., Balthazor M., Krivit W. Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 1995; 18: 413–429.; Hite S.H., Peters C., Krivit W. Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H). Pediatr Radiol 2000; 30: 464–470.; Field R.E., Buchanan J.A., Copplemans M.G., Aichroth P.M. Bone-marrow transplantation in Hurler‘s syndrome. Effect on skeletal development. J Bone Joint Surg Br 1994; 76: 975–981.; Wraith J.E., Alani S.M. Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders. Arch Dis Child 1990; 65: 962–963.; Schmidt M., Breyer S., Löbel U., Yarar S., Stücker R., Ullrich K. et al. Musculoskeletal manifestations in mucopolysaccharidosis type I ( Hurler syndrome) following hematopoietic stem cell transplantation. Orphanet J Rare Dis 2016; 11:93. DOI:10.1186/s13023-016-0470-7; Baker K.S., DeFor T.E., Burns L.J., Ramsay N.K., Neglia J.P., Robison L.L. New malignancies after blood or marrow stemcell transplantation in children and adults: incidence and risk factors. J Clin Oncol 2003; 21: 1352–1358.; Bhatia S., Ramsay N.K., Steinbuch M., Dusenbery K.E., Shapiro R.S., Weisdorf D.J. et al. Malignant neoplasms following bone marrow transplantation. Blood 1996; 87: 3633–3639.; Bhatia S., Francisco L., Carter A., Sun C.L., Baker K.S., Gurney J.G. et al. Late mortality after allogeneic hematopoietic cell transplantation and functional status of long-term survivors: report from the Bone Marrow Transplant Survivor Study. Blood 2007; 110: 3784–3792. DOI:10.1182/blood-2007-03-082933; Aldenhoven M., Wynn R.F., Orchard P.J., O’Meara A., Veys P., Fischer A. et al. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood 2015; 125:2164–2172. DOI:10.1182/blood-2014-11-608075; Storb R., Yu C., Barnett T., Wagner J.L., Deeg H.J., Nash R.A. et al. Stable mixed hematopoietic chimerism in DLA-identical littermate dogs given sublethal total body irradiation before and pharmacological immunosuppression after marrow transplantation. Blood 1997; 89: 3048–3054.; Боровкова А.С., Станчева Н.В., Разумова С.В., Паина О.В., Кожокарь П.В., Рац А.А. и др. Результаты аллогенной трансплантации гемопоэтических стволовых клеток с режимом кондиционирования сниженной интенсивности доз у пациентов с синдром Гурлера. Российский журнал детской гематологии и онкологии 2015; 2(3): 51–57. [Borovkova A.S., Stancheva N.V., Razumova S.V., Paina O.V., Kozhokar’ P.V., Rac A.A. et al. Results of allogeneic hematopoietic stem cell transplantation with reduced dose intensity conditioning in patients with Hurler syndrome. Rossijskii zhurnal detskoi gematologii i onkologii 2015; 2(3): 51–57 (in Russ.)]; Киргизов К.И., Пристанскова Е.А., Сидорова Н.В., Константинова В.В., Пурбуева Б.Б., Финк О.С. и др. Трансплантация гемопоэтических стволовых клеток у пациентов с синдром Гурлер – эффективность миелоаблативного кондиционирования. Российский журнал детской гематологии и онкологии 2015; 2(3): 46–50. [Kirgizov K.I., Pristanskova E.A., Sidorova N.V., Konstantinova V.V., Purbueva B.B., Fink O.S. et al. 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Использование профилактики острой реакции «трансплантат против хозяина» на основе посттрансплантационного циклофосфамида у пациентов с незлокачественными заболеваниями системы кроветворения и наследственными синдромами, имеющими показания к выполнению аллогенной трансплантации костного мозга. Вопросы гематологии/онкологии и иммунопатологии в педиатрии 2018; 17(2): 51–58. [Bykova T.A., Borovkova A.S., Osipova A.A., Ovechkina V.N., Sheveleva P.V., Nadzhafava K.Yu. et al. Use of prevention of acute graft-versus-host response based on posttransplant cyclophosphamide in patients with non-malignant hematopoietic diseases and hereditary syndromes that have indications for allogeneic bone marrow transplantation. Voprosy gematologii/onkologii i immunopatologii v pediatrii 2018; 17(2): 51‒58 (in Russ.)]; https://www.ped-perinatology.ru/jour/article/view/985Test

الإتاحة: https://doi.org/10.21508/1027-4065-2019-64-5-159-16410.21508/1027-4065-2019-64-510.1056/NEJM20010118344030410.1016/j.bbmt.2009.01.02010.1016/j.bbmt.2008.01.00910.1111/j.1365-2141.2009.07974.x10.1038/bmt.2009.29010.1182/blood-2008-03-14083010.1136/adc.76.2.9210.2106/JBJS.O.0060110.1186/s13023-019-1027-310.1517/14656566.6.3.48910.1016/j.jpeds.2008.07.00410.1038/sj.bmt.170540110.1038/sj.bmt.170593410.1038/bmt.2009.31910.3205/ctt-2010-en-000075.0110.1038/sj.bmt.170301010.1038/sj.bmt.170410510.1002/ajmg.132046022210.1016/s0002-9149Test(03)00909-310.1186/s13023-016-0470-710.1182/blood-2007-03-08293310.1182/blood-2014-11-608075
https://www.ped-perinatology.ru/jour/article/view/985Test

المؤلفون: Nicole Muschol, Marcel du Moulin, Luise Ammer, Anja Köhn, Cornelia Rudolph, Sarah Kabisch, Lorenz Grigull

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, DQ, developmental quotient, GAG, Glykosaminoglycans, medicine.medical_treatment, Sanfilippo syndrome, Natural history, ATG, antithymocyte globulin, Mucopolysaccharidosis type III, Hematopoietic stem cell transplantation, UCBT, umbilical cord blood-derived hematopoietic stem cell transplantation, VABS-II, Vineland Adaptive Behavior Scales, HSCT, hematopoietic stem cell transplantation, Endocrinology, Quality of life, Genetics, medicine, Dementia, Global developmental delay, ICLD, International Center for Lysosomal Disorders, Molecular Biology, Mucopolysaccharidosis Type IIIA, lcsh:QH301-705.5, lcsh:R5-920, business.industry, MPS IIIA, mucopolysaccharidosis type IIIA, MPS IIIB, mucopolysaccharidosis type IIIB, SGSH, N-sulfoglucosamine sulfohydrolase, Stem cell transplantation, TDS, total disability score, medicine.disease, MPS IH, mucopolysaccharidosis type I (Hurler syndrome), FPSS, four point scoring system, AEq, age-equivalent score, lcsh:Biology (General), MPS IIIA, HSCT, y, years, business, lcsh:Medicine (General), Avg., Average, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a778c89879896cc236478fb88a53708dTest
http://europepmc.org/articles/PMC7093801Test