Showing results (31-40 of 58) with videos related to

Sort By:
Pageof 6
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 20, 2024
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistakeAntoine Civit, Paul Gueguen, Helene Blasco, et al.
Human Mutation|December 10, 2020
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implicationsClaudia Castiglioni, François Feillet, Christine Barnerias, et al.
Critical Care (London, England)|January 22, 2022
Vitamin C improves microvascular reactivity and peripheral tissue perfusion in septic shock patientsJean-Rémi Lavillegrand, Lisa Raia, Tomas Urbina, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|July 31, 2025
N-Glycan-Dependent Proinflammatory Effects of IgM in Anti-MAG NeuropathyJean Neil, François Fenaille, Arnaud Bruneel, et al.
Life Science Alliance|February 11, 2025
A biallelic variant in <i>GORASP1</i> causes a novel Golgipathy with glycosylation and mitotic defectsSophie Lebon, Arnaud Bruneel, Séverine Drunat, et al.
Molecular Genetics and Metabolism Reports|June 18, 2021
MAN1B1-CDG: Three new individuals and associated biochemical profilesSoraya Sakhi, Sophie Cholet, Samer Wehbi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 10, 2021
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathyAlexandre Raynor, Walid Haouari, Bobby G Ng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?Peter Witters, Tomas Honzik, Eric Bauchart, et al.
Journal of Thrombosis and Haemostasis : JTH|July 5, 2019
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficienciesTiffany Pascreau, Maria E de la Morena-Barrio, Dominique Lasne, et al.
Pageof 6