Kolexia
Seta Nathalie
Pharmacien
Hôpital Bichat-Claude-Bernard
Paris, France
90 Activités
0 Followers

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{{person.topmesh1.name}} Troubles congénitaux de la glycosylation Hypotonie musculaire Épilepsie Hypersensibilité Syndrome de Walker-Warburg Maladies du foie Anomalies morphologiques congénitales des membres Néphropathies diabétiques Dysplasies osseuses

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Dernières activités

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein.
Journal of neuromuscular diseases   09 avril 2022
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
American journal of human genetics   07 mai 2021
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Journal of clinical immunology   03 février 2021
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Human mutation   21 décembre 2020
Influence of the environmental relative humidity on the inflammatory response of skin model after exposure to various environmental pollutants.
Environmental research   02 novembre 2020
Long term outcome of MPI-CDG patients on D-mannose therapy.
Journal of inherited metabolic disease   09 août 2020
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Journal of inherited metabolic disease   07 août 2020
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Journal of inherited metabolic disease   01 avril 2020
A Genome-Wide CRISPR-Cas9 Screen Identifies the Dolichol-Phosphate Mannose Synthase Complex as a Host Dependency Factor for Dengue Virus Infection.
Journal of virology   17 mars 2020
Trastornos congénitos de la glucosilación de las glucoproteínas séricas
EMC. Pediatria   01 mars 2020