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1دورية 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
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2دورية أكاديمية
المؤلفون: D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, A. Quartel
المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
مصطلحات موضوعية: Morquio syndrome A, Adults, Adulthood, Advanced disease, Long-term, Enzyme replacement therapy, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-017-0634-0Test; https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Heard, J. -M., Bellettato C, Van Lingen, Scarpa M, Debray, F. -G., Nassogne, M. -C., Van Coster, De Meirleir, L. Eyskens, F. Morava, E. Baric, I. Kozich, V. Lund, A. M. Germain, D. Belmatoug, N. Guffon, N. Labrune, P. Gouya, De Lonlay, P. Schiff, M. Dobbelaere, D. Chabrol, B. Das, A. M. Spiekerkoetter, U. Rutsch, F. Ploeckinger, U. Mohnike, K. Hahn, A. Kölker, S. Ullrich, K. Balogh, I. Bembi, B. Donati, M. A. Gasperini, S. Parenti, G. Salviati, A. Vici, C. -D., Di Rocco, M. Cefalo, G. Burlina, Ceccarini G., Federico A., Van Der Ploeg, A. Rubio-Gozalbo, M. -E., Van Spronsen, F. Visser, G. Bosch, A. Tangeraas, T. Sanderberg, S. Kieć-Wilk, B. Gaspar, A. -M. S. M., Martins E., Silva, E. -M. F. R., De Abreu Freire Diogo Matos, L. -M., Azevedo O., Tansek, M. -Z., Couce-Pico, M. -L., Cazorla A. G., Azuara, L. A. -E., Del Toro-Riera, M. Lajic, S. Darin, N. Deegan, P. Vijaym, S. Chronopoulou, E. Jones, S. Chakrapani, A. Hiwot
المساهمون: Heard, J., -M., Bellettato, C, Van, Lingen, Scarpa, M, Debray, F., -G., Nassogne, M., -C., Van, Coster, De, Meirleir, L., Eysken, F., Morava, E., Baric, I., Kozich, V., Lund, A. M., Germain, D., Belmatoug, N., Guffon, N., Labrune, P., Gouya, De, Lonlay, P., Schiff, M., Dobbelaere, D., Chabrol, B., Da, A. M., Spiekerkoetter, U., Rutsch, F., Ploeckinger, U., Mohnike, K., Hahn, A., Kölker, S., Ullrich, K., Balogh, I., Bembi, B., Donati, M. A., Gasperini, S., Parenti, G., Salviati, A., Vici, C., -D., Di, Rocco, M., Cefalo, G., Burlina, Ceccarini, G., Federico, A., Van Der, Ploeg, A., Rubio-Gozalbo, M., -E., Van, Spronsen, F., Visser, G., Bosch, A., Tangeraa, T., Sanderberg, S., Kieć-Wilk, B., Gaspar, A. -M. S., M., Martins, E., Silva, E. -M. F., R., De Abreu Freire Diogo, Mato, L., -M., Azevedo, O., Tansek, M., -Z., Couce-Pico, M., -L., Cazorla, A. G., Azuara, L. A., -E., Del, Toro-Riera, M., Lajic, S., Darin, N., Deegan, P., Vijaym, S., Chronopoulou, E., Jone, S., Chakrapani, A., Hiwot
مصطلحات موضوعية: European reference Centre, Hereditary metabolic disease, Medical research activity, Multidisciplinary research
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31144218; info:eu-repo/semantics/altIdentifier/wos/WOS:000469494700003; volume:14; issue:1; firstpage:119; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11568/999348Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066922947
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4دورية أكاديمية
المؤلفون: W.R. Wilcox, M. Banikazemi, N. Guffon, S. Waldek, P. Lee, G.E. Linthorst, R.J. Desnick, D.P. Germain
المصدر: American Journal of Human Genetics (00029297) vol.75 (2004) nr.1 p.65-74
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المؤلفون: Constantinos Papadopoulos, David Orlikowski, Hélène Prigent, Arnaud Lacour, Céline Tard, Alain Furby, Julien Praline, Guilhem Solé, Jean-Yves Hogrel, Marie De Antonio, Claudio Semplicini, Joelle Deibener-Kaminsky, Pierre Kaminsky, Bruno Eymard, Nadjib Taouagh, Barbara Perniconi, Dalil Hamroun, Pascal Laforêt, G. Bassez, A.-L. Bedat-Millet, A. Behin, B. Eymard, S. Leonard-Louis, T. Stojkovic, A. Canal, V. Decostre, F. Bouhour, F. Boyer, C. Caillaud, Y. Castaing, F. Chapon, P. Cintas, I. Durieu, A. Echaniz-Laguna, L. Feasson, X. Ferrer, R. Froissart, M. Piraud, D. Germain, K. Benistan, N. Guffon-Fouilhoux, H. Journel, P. Labauge, A. Levy, A. Magot, Y. Péréon, M.-C. Minot-Myhié, A. Nadaj-Pakleza, C. Nathier, N. Pellegrini, P. Petiot, F. Lofaso, A. Dutry, D. Renard, S. Sacconi, C. Desnuelle, E. Salort-Campana, J. Pouget, V. Tiffreau, D. Vincent, F. Zagnoli
المساهمون: Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 (URePSSS), Université d'Artois (UA)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille, Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Artois (UA)-Université de Lille-Université du Littoral Côte d'Opale (ULCO)
المصدر: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩
Molecular Genetics and Metabolism, Elsevier, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Mesh:Walking, Walking, Mesh:Adult, Respiratory failure, Biochemistry, Late Onset Disorders, Cohort Studies, 0302 clinical medicine, Endocrinology, Mesh:alpha-Glucosidases/therapeutic use, Glycogen Storage Disease Type II, Respiration, Pompe disease, Enzyme replacement therapy, Middle Aged, 3. Good health, Diabetes and Metabolism, Mesh:Late Onset Disorders/drug therapy, Cohort, Breathing, Female, France, Mesh:Respiration, Mesh:alpha-Glucosidases/administration & dosage, Mesh:Enzyme Replacement Therapy*/adverse effects, medicine.drug, Adult, Mesh:Female, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Mesh:Glycogen Storage Disease Type II/drug therapy, Mesh:Male, Late onset, 03 medical and health sciences, FEV1/FVC ratio, Mesh:alpha-Glucosidases/adverse effects, Mesh:Middle Aged, Mesh:Glycogen Storage Disease Type II/physiopathology, Genetics, medicine, Humans, Mesh:Cohort Studies, Adverse effect, Molecular Biology, Alglucosidase alfa, Mesh:France, Advanced, business.industry, nutritional and metabolic diseases, alpha-Glucosidases, Surgery, Mesh:Humans, 030104 developmental biology, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eca040ef3e520953509b66aeb672813Test
https://hal.univ-lille.fr/hal-02369159Test -
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المؤلفون: D. Hughes, R. Giugliani, N. Guffon, S. Jones, K. Mengel, R. Parini, R. Matousek, S. Hawley, A. Quartel
مصطلحات موضوعية: nervous system, mental disorders, polycyclic compounds, sense organs, human activities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f3ba89300784a60947d48103bad05291Test
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النص الكامل