Nathalie Seta
Paris, 75018, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 50 publications
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Journal: American journal of human genetics
Published: February 04, 2021
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Journal: Journal of clinical immunology
Published: December 07, 2020
Influence of the environmental relative humidity on the inflammatory response of skin model after exposure to various environmental pollutants.
Journal: Environmental research
Published: July 29, 2020
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Journal: Human mutation
Published: June 05, 2020
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Journal: Journal of inherited metabolic disease
Published: May 05, 2020
Long term outcome of MPI-CDG patients on D-mannose therapy.
Journal: Journal of inherited metabolic disease
Published: April 26, 2020
A Genome-Wide CRISPR-Cas9 Screen Identifies the Dolichol-Phosphate Mannose Synthase Complex as a Host Dependency Factor for Dengue Virus Infection.
Journal: Journal of virology
Published: October 11, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Journal: Journal of inherited metabolic disease
Published: February 12, 2019
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Journal: Human mutation
Published: January 22, 2019
Asthma and allergic rhinitis risk depends on house dust mite specific IgE levels in PARIS birth cohort children.
Journal: The World Allergy Organization journal
Published: January 04, 2019
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.
Journal: Journal of thrombosis and haemostasis : JTH
Published: November 16, 2018
An in vitro model to evaluate the impact of environmental fine particles (PM0.3-2.5) on skin damage.
An in vitro model to evaluate the impact of environmental fine particles (PM0.3-2.5) on skin damage.
Journal: Toxicology letters
Published: November 05, 2018
Last Updated: 09/26/2026