المؤلفون: Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, Roberto Giugliani

المصدر: Diagnostics; Volume 10; Issue 3; Pages: 161

مصطلحات موضوعية: mucopolysaccharidosis type I, Hurler syndrome, Hurler–Scheie syndrome, Scheie syndrome, glycosaminoglycans, enzyme replacement therapy, hematopoietic stem cell transplantation

وصف الملف: application/pdf

العلاقة: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics10030161Test

الإتاحة: https://doi.org/10.3390/diagnostics10030161Test

المؤلفون: Patricia L. Hall, Rossana Sanchez, Arthur F. Hagar, S. Caleb Jerris, Angela Wittenauer, William R. Wilcox

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 1; Pages: 2

مصطلحات موضوعية: newborn screening, post-analytical tools, Pompe disease, mucopolysaccharidosis type I, pseudodeficiency

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/ijns6010002Test

الإتاحة: https://doi.org/10.3390/ijns6010002Test

المؤلفون: Roberto Giugliani, Luciana Giugliani, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Amauri Dalla Corte, Mathias Schmidt, Ruben J. Boado, Igor Nestrasil, Carol Nguyen, Steven Chen, William M. Pardridge

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: Mucopolysaccharidosis Type I, Iduronidase, Blood-brain barrier, Insulin receptor, Open label clinical trial, Safety, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0849-8Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/63a9fb19c12247fe96ee3a05f40029c3Test

المؤلفون: Latifa Chkioua, Hela Boudabous, Ibtissem Jaballi, Oussama Grissa, Hadhami Ben Turkia, Neji Tebib, Sandrine Laradi

المصدر: Diagnostic Pathology, Vol 13, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Mucopolysaccharidosis type I, α-L-iduronidase, Splice site mutation, Homozygous, Compound heterozygote, Pathology, RB1-214

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13000-018-0710-3Test; https://doaj.org/toc/1746-1596Test

الوصول الحر: https://doaj.org/article/19f742a2ac334e2fb43125117847891fTest

المؤلفون: Elsa G. Shapiro, Chester B. Whitley, Julie B. Eisengart

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Mucopolysaccharidosis type I, Developmental quotient, Neurodegenerative disease, Age equivalent, Cognitive decline, Newborn screening, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0817-3Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/bbaed3c8c6b842ffb7a9f6ddf6649ef6Test

المؤلفون: Heather G. Mack, R.C. Andrew Symons, Gerard de Jong

المصدر: American Journal of Ophthalmology Case Reports, Vol 9, Iss C, Pp 1-6 (2018)

مصطلحات موضوعية: Enzyme replacement therapy, Scheie, Macula, Mucopolysaccharidosis type I, Iduronidase, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2451993616303097Test; https://doaj.org/toc/2451-9936Test

الوصول الحر: https://doaj.org/article/f9ebc8a62dfe420b8cb673f69487828dTest

المؤلفون: Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis, Frits A. Wijburg

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: Mucopolysaccharidosis type I, Mucopolysaccharidosis type III, Diagnostic delay, Awareness, Rare diseases, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0733-yTest; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/ebaf4916cd344ccea5f26806653b9f09Test

المؤلفون: Bernhard, Gentner, Francesca, Tucci, Stefania, Galimberti, Francesca, Fumagalli, Maurizio, De Pellegrin, Paolo, Silvani, Chiara, Camesasca, Silvia, Pontesilli, Silvia, Darin, Francesca, Ciotti, Marina, Sarzana, Giulia, Consiglieri, Chiara, Filisetti, Giulia, Forni, Laura, Passerini, Daniela, Tomasoni, Daniela, Cesana, Andrea, Calabria, Giulio, Spinozzi, Maria-Pia, Cicalese, Valeria, Calbi, Maddalena, Migliavacca, Federica, Barzaghi, Francesca, Ferrua, Vera, Gallo, Simona, Miglietta, Erika, Zonari, Patali S, Cheruku, Claudia, Forni, Marcella, Facchini, Ambra, Corti, Michela, Gabaldo, Stefano, Zancan, Serena, Gasperini, Attilio, Rovelli, Jaap-Jan, Boelens, Simon A, Jones, Robert, Wynn, Cristina, Baldoli, Eugenio, Montini, Silvia, Gregori, Fabio, Ciceri, Maria G, Valsecchi, Giancarlo, la Marca, Rossella, Parini, Luigi, Naldini, Alessandro, Aiuti, Maria-Ester, Bernardo, Ilaria, Visagalli

المساهمون: Gentner, B, Tucci, F, Galimberti, S, Fumagalli, F, De Pellegrin, M, Silvani, P, Camesasca, C, Pontesilli, S, Darin, S, Ciotti, F, Sarzana, M, Consiglieri, G, Filisetti, C, Forni, G, Passerini, L, Tomasoni, D, Cesana, D, Calabria, A, Spinozzi, G, Cicalese, M, Calbi, V, Migliavacca, M, Barzaghi, F, Ferrua, F, Gallo, V, Miglietta, S, Zonari, E, Cheruku, P, Forni, C, Facchini, M, Corti, A, Gabaldo, M, Zancan, S, Gasperini, S, Rovelli, A, Boelens, J, Jones, S, Wynn, R, Baldoli, C, Montini, E, Gregori, S, Ciceri, F, Valsecchi, M, la Marca, G, Parini, R, Naldini, L, Aiuti, A, Bernardo, M, Gentner, B., Tucci, F., Galimberti, S., Fumagalli, F., De Pellegrin, M., Silvani, P., Camesasca, C., Pontesilli, S., Darin, S., Ciotti, F., Sarzana, M., Consiglieri, G., Filisetti, C., Forni, G., Passerini, L., Tomasoni, D., Cesana, D., Calabria, A., Spinozzi, G., Cicalese, M. -P., Calbi, V., Migliavacca, M., Barzaghi, F., Ferrua, F., Gallo, V., Miglietta, S., Zonari, E., Cheruku, P. S., Forni, C., Facchini, M., Corti, A., Gabaldo, M., Zancan, S., Gasperini, S., Rovelli, A., Boelens, J. -J., Jones, S. A., Wynn, R., Baldoli, C., Montini, E., Gregori, S., Ciceri, F., Valsecchi, M. G., La Marca, G., Parini, R., Naldini, L., Aiuti, A., Bernardo, M. -E.

المصدر: New England Journal of Medicine. 385:1929-1940

مصطلحات موضوعية: Male, Oncology, medicine.medical_specialty, Mucopolysaccharidosis I, Urinary system, Genetic enhancement, Genetic Vectors, Transplantation, Autologous, Iduronidase, Mucopolysaccharidosis type I, Internal medicine, MPSIH, medicine, Humans, Progenitor cell, Hurler syndrome, Glycosaminoglycans, business.industry, Lentivirus, mucopolysaccharidosis type I, Hematopoietic Stem Cell Transplantation, Infant, Genetic Therapy, General Medicine, medicine.disease, gene therapy, Transplantation, Haematopoiesis, Child, Preschool, Mutation, Female, business, Ex vivo, Follow-Up Studies, Stem Cell Transplantation

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc127ebe27e8c45f4441f81d50e24d74Test
https://doi.org/10.1056/nejmoa2106596Test

المؤلفون: Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin, Tai-Tong Wong

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Mucopolysaccharidosis type I, Blood-brain barrier, Ultrasound, Recombinant human alpha-L-iduronidase, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0649-6Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/d6767dd6925649788c948173abc6ef02Test

المؤلفون: Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N. Semyachkina, Victoria Y. Voinova, Susan Richards, Gerald F. Cox, Yong Xue

المصدر: Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 61-66 (2017)

مصطلحات موضوعية: Mucopolysaccharidosis type I, Enzyme replacement therapy, Immune tolerance, Laronidase, Hurler syndrome, Anti-drug antibodies, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426916301276Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/998a60bde9224e6f8aaf4e30d7753d5eTest