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

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 Diseases

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2019fd6ca96eb1cda8c25a96cb5b49d
https://doi.org/10.1186/s13023-021-02034-6

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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

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

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

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

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

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

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