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

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/2cacf798ff01406aa0218951d1a1ed06

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المؤلفون: W. Mauhin, T. Levade, M.T. Vanier, R. Froissart, O. Lidove

المصدر: La Revue de Médecine Interne. 43:A74

مصطلحات موضوعية: Gastroenterology, Internal Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cc04841a47d3e63634d76cc37ceb4fb0
https://doi.org/10.1016/j.revmed.2022.03.251

المؤلفون: P. Sahuc, L. Swiader, Jean Pouget, B. Dussol, S. Attarian, Jérôme Franques, R. Froissart, C. Stavris, Guillaume Penaranda, Laurent Chiche

المصدر: Revue Neurologique. 173:650-657

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Diagnostic Techniques, Neurological, Disease, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Dyshidrosis, Peripheral nerve, Internal medicine, Humans, Medicine, In patient, Peripheral Nerves, Aged, 030203 arthritis & rheumatology, business.industry, Peripheral Nervous System Diseases, Hypoesthesia, Middle Aged, medicine.disease, Fabry's disease, Electrophysiological Phenomena, Autonomic nervous system, Neurology, Case-Control Studies, Cardiology, Fabry Disease, Neurology (clinical), medicine.symptom, business, Skin conductance, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::389fde26483d79cf346d5f90b4afe889
https://doi.org/10.1016/j.neurol.2017.05.007

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المؤلفون: C. Serratrice, Sébastien Rivière, Isabelle Durieu, Jean-Marc Ziza, M. Gatfosse, Z. Amoura, T. Sené, Nadia Belmatoug, C. Douillard, K. Mazodier, O. Lidove, R. Froissart, G. Besson, Abdellatif Tazi, Pascal Cathébras, C. Goizet, Marie T. Vanier, Christian Lavigne

المصدر: La Revue de Médecine Interne. 38:291-299

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Gastroenterology, Internal Medicine, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::64d479e86f4464fc53182a57c77329b6
https://doi.org/10.1016/j.revmed.2016.10.387

المؤلفون: M. Krahn, V. Biancalana, L. Michel-Calemard, J. Nectoux, F. Leturcq, C. Bouchet Seraphin, C. Bourdain-Acquaviva, R. Froissart, J. Melki, J. Urtizberea, A. Molon, E. Campana-Salort, J. Pouget, J. Rendu, F. Petit, C. Metay, N. Seta, D. Sternberg, J. Faure, M. Cossée

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE)

المصدر: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2017, 27 (2), pp.S196. ⟨10.1016/j.nmd.2017.06.370⟩
Neuromuscular Disorders, 2017, 27 (2), pp.S196. ⟨10.1016/j.nmd.2017.06.370⟩

مصطلحات موضوعية: Genetics, Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ac5e1ea29b7b135485f324ec91c7ac4
https://hal.archives-ouvertes.fr/hal-01741737

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eca040ef3e520953509b66aeb672813
https://hal.univ-lille.fr/hal-02369159