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المؤلفون: Pavlova, E. V., Lev, D., Michelson, M., Yosovich, K., Michaeli, H. G., Bright, N. A., Manna, Paul T, Dickson, V. K., Tylee, K. L., Church, H. J., Luzio, J. P., Cox, T. M.
المصدر: Human Mutation. 43(12):2265-2278
مصطلحات موضوعية: Neurosciences, Neurovetenskaper, drug repurposing, endolysosomal acidification, glycosaminoglycan, glycosphingolipid trafficking, intracellular endocytic trafficking, mucopolysaccharidosis, proteasome inhibitor, substrate reduction, therapy, VPS33A, glucosylceramide synthase, gaucher-disease, endocytic pathway, hops, complex, trafficking, inhibitor, fusion, glycosphingolipids, cholesterol, recruitment, Genetics & Heredity
URL الوصول: https://gup.ub.gu.se/publication/322234
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المؤلفون: D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R., Vellodi, A.
المساهمون: Cox, Timothy M [0000-0002-4951-9941], Apollo - University of Cambridge Repository, Cox, Timothy M. [0000-0002-4951-9941]
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Splenectomy, Disease, Cohort Studies, Lysosomal storage diseases, medicine, Humans, Disease-modifying therapies, GAUCHERITE, Pharmacology (medical), Substrate reduction therapy, Prospective Studies, Bone pain, Genetics (clinical), Retrospective Studies, Gaucher Disease, business.industry, Research, Cohort, Genetic disorder, General Medicine, Enzyme replacement therapy, medicine.disease, Orthopedic surgery, Medicine, Glucosylceramidase, Nervous System Diseases, medicine.symptom, business
وصف الملف: application/pdf; application/zip; text/xml
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3دورية أكاديمية
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4دورية أكاديمية
المؤلفون: Marchesan, D., Cox, T. M., Deegan, P. B.
المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2012 35(6):1107-1117
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المؤلفون: Champion, H., Ramaswami, U., Imrie, J., Lachmann, R. H., Gallagher, J., Cox, T. M., Wraith, J. E.
المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. December 2010 33(3):379-383
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6دورية أكاديمية
المؤلفون: Cox, T. M., Aerts, J. M. F. G., Belmatoug, N., Cappellini, M. D., vom Dahl, S., Goldblatt, J., Grabowski, G. A., Hollak, C. E. M., Hwu, P., Maas, M., Martins, A. M., Mistry, P. K., Pastores, G. M., Tylki-Szymanska, A., Yee, J., Weinreb, N.
المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. June 2008 31(3):319-336
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المؤلفون: Perez-Amodio, S., Jansen, D. C., Schoenmaker, T., Vogels, I. M. C., Reinheckel, T., Hayman, A. R., Cox, T. M., Saftig, P., Beertsen, W., Everts, V.
المصدر: Calcified Tissue International. October 2006 79(4):245-254
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8دورية أكاديمية
المؤلفون: Whitfield, P. D., Calvin, J., Hogg, S., O’Driscoll, E., Halsall, D., Burling, K., Maguire, G., Wright, N., Cox, T. M., Meikle, P. J., Deegan, P. B.
المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. January 2005 28(1):21-33
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9دورية أكاديمية
المؤلفون: Elstein, D., Hollak, C., Aerts, J. M. F. G., van Weely, S., Maas, M., Cox, T. M., Lachmann, R. H., Hrebicek, M., Platt, F. M., Butters, T. D., Dwek, R. A., Zimran, A.
المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2004 27(6):757-766
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10دورية أكاديمية
المؤلفون: Cox, T. M., Aerts, J. M. F. G., Andria, G., Beck, M., Belmatoug, N., Bembi, B., Chertkoff, R., Vom Dahl, S., Elstein, D., Erikson, A., Giralt, M., Heitner, R., Hollak, C., Hrebicek, M., Lewis, S., Mehta, A., Pastores, G. M., Rolfs, A., Sa Miranda, M. C., Zimran, A.
المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2003 26(6):513-526