Margaux Gaschignard
Paris, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.
Journal: Journal of inherited metabolic disease
Published: January 14, 2026
Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.
Journal: Journal of inherited metabolic disease
Published: October 07, 2025
Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.
Journal: Journal of inherited metabolic disease
Published: October 07, 2025
Long-Term Follow-Up of Patients With Transaldolase Deficiency.
Journal: Journal of inherited metabolic disease
Published: September 30, 2025
Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort.
Journal: Journal of inherited metabolic disease
Published: September 29, 2025
Two analytically confirmed cases of vegetable-induced methemoglobinemia.
Journal: Clinical toxicology (Philadelphia, Pa.)
Published: July 28, 2025
Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant.
Journal: Frontiers in genetics
Published: May 13, 2024
Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review.
Journal: Frontiers in genetics
Published: June 28, 2023
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.
Journal: Molecular genetics and metabolism
Published: June 05, 2023
Dietary intake assessment in children with cystic fibrosis using 3-day food diaries: a single-centre study.
Journal: Frontiers in pediatrics
Published: December 23, 2022
Nutritional impact of CFTR modulators in children with cystic fibrosis.
Journal: Frontiers in pediatrics
Published: December 23, 2022
Showing 1-11 of 11
Last Updated: 09/26/2026