المؤلفون: Khamaysa, M., Lefort, M., Pélégrini-Issac, M., Lackmy-Vallée, A., Mendili, M. M. El^{Aff2, Aff3}, Preuilh, A., Devos, D.^{Aff4, Aff5}, Bruneteau, G., Salachas, F., Lenglet, T.^{Aff6, Aff7, Aff13}, Amador, Md. M., Le Forestier, N.^{Aff6, Aff14}, Hesters, A., Gonzalez, J., Rolland, A.-S., Desnuelle, C., Chupin, M., Querin, G.^{Aff9, Aff10}, Georges, M.^{Aff12, Aff18, Aff19}, Morelot-Panzini, C.^{Aff11, Aff17}, Marchand-Pauvert, V., Pradat, P.-F.^{Aff1, Aff6, Aff15, Aff16, IDs0041502312045x_cor22}

المصدر: Journal of Neurology. 271(3):1235-1246

المؤلفون: Khamaysa, M., Lefort, M., Pélégrini-Issac, M., Lackmy-Vallée, A., Preuilh, A., Devos, D.^{Aff2, Aff3}, Rolland, A.-S., Desnuelle, C., Chupin, M., Marchand-Pauvert, V., Querin, G.^{Aff7, Aff8}, Pradat, Pierre-François^{Aff1, Aff4, Aff9, IDs0041502311727w_cor12}

المصدر: Journal of Neurology. 270(8):3885-3895

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المؤلفون: Byrne, Barry J, Geberhiwot, Tarekegn, Barshop, Bruce A, Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, Walsh, Liron, on behalf of the POM-001/002 Investigators

المصدر: Orphanet Journal of Rare Diseases. 12(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Chronic Liver Disease and Cirrhosis, Rare Diseases, Liver Disease, Lung, Clinical Research, Digestive Diseases, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adult, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II, Humans, Male, Middle Aged, Muscle, Skeletal, alpha-Glucosidases, Reveglucosidase alfa, Late-onset Pompe disease, Enzyme replacement therapy, Pharmacokinetics, Safety, Efficacy, Respiratory, Pulmonary, POM-001/002 Investigators, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7nr1h349

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المؤلفون: P. Desnuelle, P. Savary

المصدر: Journal of Lipid Research, Vol 4, Iss 4, Pp 369-384 (1963)

مصطلحات موضوعية: Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520402780; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/74ca0304dd1b4d17955416969ab0efcb

المؤلفون: Ruetsch-Chelli, Caroline^{Aff1, Aff2, Aff4}, Bresch, Saskia, Seitz-Polski, Barbara^{Aff1, Aff4}, Rosenthal, Alessandra, Desnuelle, Claude, Cohen, Mikael^{Aff3, Aff4}, Brglez, Vesna, Ticchioni, Michel^{Aff1, Aff2}, Lebrun-Frenay, Christine^{Aff3, Aff4, IDs13311021010069_cor9}

المصدر: Neurotherapeutics: The Journal of the American Society for Experimental Neurotherapeutics. 18(2):938-948

المؤلفون: Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede, Claude Desnuelle, on behalf of the French Kennedy’s Disease Writing Group

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)

مصطلحات موضوعية: Kennedy disease, Spinal and bulbar muscular atrophy, Guidelines, Polyglutamine, Androgen receptor, Androgen insensitivity, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01366-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/53385653b6f54dc88c82f8af909bb4bc

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