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1دورية أكاديمية
المؤلفون: Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Acid sphingomyelinase deficiency (ASMD), Niemann–Pick disease, Mortality, Survival, Niemann–Pick disease type B, Standardised mortality ratio, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Deborah Elstein, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Diego Fernandez-Sasso, Pilar Giraldo, Özlem Göker-Alpan, Derralynn Hughes, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Ida Vanessa D. Schwartz, Majdolen Istaiti, Jaco Botha, Noga Gadir, Jörn Schenk, Ari Zimran
المصدر: Journal of Clinical Medicine, Vol 13, Iss 12, p 3588 (2024)
مصطلحات موضوعية: velaglucerase alfa, enzyme replacement therapy, ERT, Gaucher disease, GOS, registry, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Monia Bengherbia, Marc Berger, Bénédicte Hivert, Florian Rigaudier, Luc Bracoud, Ole Vaeterlein, Karima Yousfi, Michele Maric, Marie Malcles, Nadia Belmatoug
المصدر: Journal of Clinical Medicine, Vol 13, Iss 10, p 2926 (2024)
مصطلحات موضوعية: Gaucher disease, lysosomal storage disorder, bone marrow infiltration, hepatosplenomegaly, thrombocytopenia, real-world data, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Nathalie Guffon, Delphine Genevaz, Didier Lacombe, Eliane Le Peillet Feuillet, Pascale Bausson, Esther Noel, François Maillot, Nadia Belmatoug, Roland Jaussaud
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Caregiver, Disability, Mucopolysaccharidoses, Quality of life, Qualitative survey, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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5دورية أكاديمية
المؤلفون: Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, Nadia Belmatoug
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Lysosomal diseases, Transition from childhood to adulthood, Patient survey, Patient opinion, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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6دورية أكاديمية
المؤلفون: Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Rohini Sen, Ari Zimran
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
مصطلحات موضوعية: Patient-reported outcomes, PROM, Gaucher disease, Lysosomal storage disorder, Questionnaire, Content validation, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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7دورية أكاديمية
المؤلفون: Lucie Dupuis, Margaux Chauvet, Emmanuelle Bourdelier, Michaël Dussiot, Nadia Belmatoug, Caroline Le Van Kim, Arnaud Chêne, Mélanie Franco
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 14, p 7640 (2022)
مصطلحات موضوعية: red blood cells, erythrophagocytosis, macrophages, Gaucher disease, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Karolina M. Stepien, Beata Kieć-Wilk, Christina Lampe, Trine Tangeraas, Graziella Cefalo, Nadia Belmatoug, Rita Francisco, Mireia del Toro, Leona Wagner, Anne-Grethe Lauridsen, Sylvia Sestini, Nathalie Weinhold, Andreas Hahn, Chiara Montanari, Valentina Rovelli, Cinzia M. Bellettato, Laura Paneghetti, Corine van Lingen, Maurizio Scarpa
المصدر: Frontiers in Medicine, Vol 8 (2021)
مصطلحات موضوعية: rare disease, inherited metabolic disease(s), transition process, challenge, adulthood (18 years and older), continuity of care, Medicine (General), R5-920
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Christine Serratrice, Jérôme Stirnemann, Amina Berrahal, Nadia Belmatoug, Fabrice Camou, Catherine Caillaud, Thierry Billette de Villemeur, Florence Dalbies, Bérengère Cador, Roseline Froissart, Agathe Masseau, Anaïs Brassier, Bénédicte Hivert, Laure Swiader, Ivan Bertchansky, Claire de Moreuil, Brigitte Chabrol, Isabelle Durieu, Vanessa Leguy Seguin, Leonardo Astudillo, Sébastien Humbert, Samia Pichard, Catherine Marcel, Isabelle Hau Rainsard, Monia Bengherbia, Karima Yousfi, Marc G. Berger
المصدر: Journal of Clinical Medicine, Vol 9, Iss 8, p 2343 (2020)
مصطلحات موضوعية: Gaucher disease, lysosomal storage disorder, disease course, enzyme replacement therapy, risk factors, prognosis, Medicine
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Yann Nguyen, Jérôme Stirnemann, Florent Lautredoux, Bérengère Cador, Monia Bengherbia, Karima Yousfi, Dalil Hamroun, Leonardo Astudillo, Thierry Billette de Villemeur, Anaïs Brassier, Fabrice Camou, Florence Dalbies, Dries Dobbelaere, Francis Gaches, Vanessa Leguy-Seguin, Agathe Masseau, Yves-Marie Pers, Samia Pichard, Christine Serratrice, Marc G. Berger, Bruno Fantin, Nadia Belmatoug, on behalf of the French Evaluation of Gaucher Disease Treatment Committee
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 4, p 1247 (2020)
مصطلحات موضوعية: gaucher disease, polyclonal gammopathy, monoclonal gammopathy, multiple myeloma, monoclonal gammopathy of unknown significance, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource