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Anne-Sophie Guemann

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Pediatrics and Neonatology|December 28, 2020
Effect of the enzyme replacement therapy on hypertrophic cardiomyopathy in an infant with the CRIM-negative infantile Pompe's diseaseGuy Vaksmann, Anne-Sophie Guemann, Karine Mention
American Journal of Hematology|January 7, 2020
When leukocytes bite off more than they can chewDoriane Dechaux-Blanc, Farid Zerimech, Anne-Sophie Guemann, et al.
Clinical Chemistry|October 2, 2023
Deafness, Encephalopathy, and Lactic Acidosis: What If It Was an Inborn Metabolic Error?Nicolas Germain, Lucie Vaudran, Anne-Sophie Guemann, et al.
Clinical Chemistry|October 31, 2019
Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic AcidosisLéo-Paul Bancel, Nicolas Germain, Anne-Sophie Guemann, et al.
Molecular Genetics and Metabolism|January 13, 2018
Cardiac function and exercise adaptation in 8 children with LPIN1 mutationsAntoine Legendre, Diala Khraiche, Phalla Ou, et al.
Cardiology in the Young|June 17, 2014
ELN gene triplication responsible for familial supravalvular aortic aneurysmAnne-Sophie Guemann, Joris Andrieux, Florence Petit, et al.
Journal of Inherited Metabolic Disease|September 1, 2017
Autism spectrum disorders in propionic acidemia patientsCaroline Dejean de la Bâtie, Valérie Barbier, Célina Roda, et al.
Orphanet Journal of Rare Diseases|February 14, 2026
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare DiseasesClaire Douillard, Aurélia Poujois, Nadia Belmatoug, et al.
Orphanet Journal of Rare Diseases|October 28, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher diseaseFabrice Camou, Christine Serratrice, Magali Pettazzoni, 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 emulationMaxime Beydon, Jérôme Stirnemann, Karima Yousfi, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Pediatrics and Neonatology|December 28, 2020
Effect of the enzyme replacement therapy on hypertrophic cardiomyopathy in an infant with the CRIM-negative infantile Pompe's diseaseGuy Vaksmann, Anne-Sophie Guemann, Karine Mention
American Journal of Hematology|January 7, 2020
When leukocytes bite off more than they can chewDoriane Dechaux-Blanc, Farid Zerimech, Anne-Sophie Guemann, et al.
Clinical Chemistry|October 2, 2023
Deafness, Encephalopathy, and Lactic Acidosis: What If It Was an Inborn Metabolic Error?Nicolas Germain, Lucie Vaudran, Anne-Sophie Guemann, et al.
Clinical Chemistry|October 31, 2019
Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic AcidosisLéo-Paul Bancel, Nicolas Germain, Anne-Sophie Guemann, et al.
Molecular Genetics and Metabolism|January 13, 2018
Cardiac function and exercise adaptation in 8 children with LPIN1 mutationsAntoine Legendre, Diala Khraiche, Phalla Ou, et al.
Cardiology in the Young|June 17, 2014
ELN gene triplication responsible for familial supravalvular aortic aneurysmAnne-Sophie Guemann, Joris Andrieux, Florence Petit, et al.
Journal of Inherited Metabolic Disease|September 1, 2017
Autism spectrum disorders in propionic acidemia patientsCaroline Dejean de la Bâtie, Valérie Barbier, Célina Roda, et al.
Orphanet Journal of Rare Diseases|February 14, 2026
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare DiseasesClaire Douillard, Aurélia Poujois, Nadia Belmatoug, et al.
Orphanet Journal of Rare Diseases|October 28, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher diseaseFabrice Camou, Christine Serratrice, Magali Pettazzoni, 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 emulationMaxime Beydon, Jérôme Stirnemann, Karima Yousfi, et al.
Pageof 2