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Journal of Inherited Metabolic Disease
|
March 20, 2025
Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up
Alberto Nasce, Yann Nguyen, Nadia Belmatoug, et al.
Neurology
|
July 7, 2023
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022
Claire Lefeuvre, Marie De Antonio, Francoise Bouhour, et al.
Human Mutation
|
April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
Sylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
European Journal of Neurology
|
October 27, 2025
Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study
Diana Maria Chitimus, Céline Tard, Maxime Fournier, et al.
European Journal of Neurology
|
August 7, 2024
Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry
Emilie Retailleau, Claire Lefeuvre, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases
|
October 11, 2012
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients
Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, et al.
International Journal of Molecular Sciences
|
February 20, 2020
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry
Yann Nguyen, Jérôme Stirnemann, Florent Lautredoux, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2025
Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades
Yann Nguyen, Maxime Beydon, Karima Yousfi, et al.
Journal of Internal Medicine
|
February 28, 2026
Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation
Maxime Beydon, Jérôme Stirnemann, Karima Yousfi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 17, 2011
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials
Véronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 43) with videos related to
Sort By:
Page
of 5
Journal of Inherited Metabolic Disease
|
March 20, 2025
Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up
Alberto Nasce, Yann Nguyen, Nadia Belmatoug, et al.
Neurology
|
July 7, 2023
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022
Claire Lefeuvre, Marie De Antonio, Francoise Bouhour, et al.
Human Mutation
|
April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
Sylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
European Journal of Neurology
|
October 27, 2025
Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study
Diana Maria Chitimus, Céline Tard, Maxime Fournier, et al.
European Journal of Neurology
|
August 7, 2024
Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry
Emilie Retailleau, Claire Lefeuvre, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases
|
October 11, 2012
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients
Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, et al.
International Journal of Molecular Sciences
|
February 20, 2020
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry
Yann Nguyen, Jérôme Stirnemann, Florent Lautredoux, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2025
Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades
Yann Nguyen, Maxime Beydon, Karima Yousfi, et al.
Journal of Internal Medicine
|
February 28, 2026
Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation
Maxime Beydon, Jérôme Stirnemann, Karima Yousfi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 17, 2011
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials
Véronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, et al.
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of 5