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1دورية أكاديمية
المؤلفون: Pascale Tuyaa-Boustugue, Ingrid Jantzen, Haoyue Zhang, Sarah P. Young, Pierre Broqua, Mireille Tallandier, Eugeni Entchev
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101011- (2023)
مصطلحات موضوعية: Mucopolysaccharidosis type VI, Mucopolysaccharidosis type I, Lysosome, Odiparcil, MPS VI therapy, MPS I therapy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000575Test; https://doaj.org/toc/2214-4269Test
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2
المؤلفون: Maccarana, Marco, Tykesson, Emil, Pera, Edgar M., Gouignard, Nadège, Fang, Jianping, Malmström, Anders, Ghiselli, Giancarlo, Li, Jin Ping
المصدر: Glycobiology StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 31(10):1319-1329
مصطلحات موضوعية: chondroitin dermatan sulfate, ebselen, epimerases, mucopolysaccharidosis type I, substrate reduction therapy, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Farmakologi och toxikologi, Medical and Health Sciences, Basic Medicine, Pharmacology and Toxicology
الوصول الحر: https://lup.lub.lu.se/record/ec98dc64-fe51-4530-be67-073763101673Test
http://dx.doi.org/10.1093/glycob/cwab066Test -
3دورية أكاديمية
المؤلفون: Marcelina Malinowska, Wioletta Nowicka, Anna Kloska, Grzegorz Węgrzyn, Joanna Jakóbkiewicz-Banecka
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 4, p 2371 (2024)
مصطلحات موضوعية: mucopolysaccharidosis type I, glycosaminoglycans, laronidase, genistein, combination therapy, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/4/2371Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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4دورية أكاديمية
المؤلفون: Jing Su, Xiu Jin, Kaiqin She, Yi Liu, Li Song, Qinyu Zhao, Jianlu Xiao, Ruiting Li, Hongxin Deng, Fang Lu, Yang Yang
المصدر: Molecular Biomedicine, Vol 4, Iss 1, Pp 1-14 (2023)
مصطلحات موضوعية: Lysosomal storage disease, Mucopolysaccharidosis type I, Monogenic disease, Adeno-associated virus, Base editing, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2662-8651Test
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5دورية أكاديمية
المؤلفون: Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina
المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 3 (2023)
مصطلحات موضوعية: newborn screening, lysosomal storage disease, Pompe disease, mucopolysaccharidosis type I, Gaucher disease, Fabry disease, Pediatrics, RJ1-570
وصف الملف: electronic resource
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6رسالة جامعية
المؤلفون: Ghosh, Arunabha
المساهمون: Bigger, Brian, Jones, Simon
مصطلحات موضوعية: 616.3, Bone marrow transplantation, Haematopoietic stem cell transplantation, Substrate reduction therapy, Clinical trials, Genistein, Genistein aglycone, Glycosaminoglycans, Heparan sulfate, Clinical trial design, Enzyme replacement therapy, Immune tolerance induction, Antibodies, Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type III, Hurler syndrome, Anti-drug antibodies, Hurler-Scheie syndrome, Sanfilippo disease, Newborn screening, Genotype-phenotype correlations, Scheie syndrome
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7دورية أكاديمية
المؤلفون: Sarah Kim, Michael J. Przybilla, Chester B. Whitley, Li Ou, Mahmoud Al-Kofahi, Jeanine R. Jarnes
المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100917- (2022)
مصطلحات موضوعية: Lysosomal diseases, Mucopolysaccharidosis type I, Fusion enzyme, Gene therapy, Pharmacology, Pharmacokinetics, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426922000775Test; https://doaj.org/toc/2214-4269Test
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8دورية أكاديمية
المؤلفون: Lauma Vasilevska, Madara Auzenbaha, Ieva Grinfelde, Anita Skangale
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: enzyme replacement therapy (ERT), mucopolysaccharidosis type I, laronidase, multi drug resistant tuberculosis (MDR-TB), latent tuberculosis treatment, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.973193/fullTest; https://doaj.org/toc/2296-2360Test
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9دورية أكاديمية
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: mucopolysaccharidosis, mucopolysaccharidosis type I, α-L-iduronidase, laronidase, replacement therapy, case report, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.823044/fullTest; https://doaj.org/toc/2296-2360Test
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10دورية أكاديمية
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