Showing results (1-10 of 49) with videos related to

Sort By:
Pageof 5
Journal of Neuromuscular Diseases|February 16, 2017
Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single GlycoproteinCéline Bouchet-Séraphin, Sandrine Vuillaumier-Barrot, Nathalie Seta
JIMD Reports|September 27, 2014
A Cause of Permanent Ketosis: GLUT-1 DeficiencyAlexis Chenouard, Sandrine Vuillaumier-Barrot, Nathalie Seta, et al.
Annales De Biologie Clinique|March 1, 2025
[Increased troponin T in a patient with myositis]Sarah Diabate, Céline Bouchet-Seraphin, Sandrine Vuillaumier-Barrot, et al.
Human Mutation|April 22, 2005
A new insight into PMM2 mutations in the French populationChristiane Le Bizec, Sandrine Vuillaumier-Barrot, Anne Barnier, et al.
JIMD Reports|February 23, 2013
Expanding the Spectrum of PMM2-CDG PhenotypeSandrine Vuillaumier-Barrot, Bertrand Isidor, Thierry Dupré, et al.
Orphanet Journal of Rare Diseases|February 21, 2025
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNASandrine Vuillaumier-Barrot, Thierry Dupré, Tiffany Andriantsihoarana, et al.
Brain & Development|June 15, 2019
Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutationsBlandine Dozières-Puyravel, Sasha Zaman, Steven Petrou, et al.
Molecular Genetics and Metabolism|December 27, 2005
PMM2 intronic branch-site mutations in CDG-IaSandrine Vuillaumier-Barrot, Christiane Le Bizec, Pascale De Lonlay, et al.
Developmental Medicine and Child Neurology|May 14, 2016
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancyCarmen Barba, Francesca Darra, Raffaella Cusmai, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 22, 2021
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!Alexandre Raynor, Catherine Vincent-Delorme, Anne-Sophie Alaix, et al.
Pageof 5