Magali Gorce

Toulouse, France

Last Updated: 09/26/2026

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Found 16 publications

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Journal: Orphanet journal of rare diseases

Published: September 19, 2025

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Journal: Journal of inherited metabolic disease

Published: September 03, 2025

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study.

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study.

Journal: Orphanet journal of rare diseases

Published: December 11, 2024

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Journal: Molecular genetics and metabolism

Published: April 29, 2024

Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study.

Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study.

Journal: Orphanet journal of rare diseases

Published: April 15, 2024

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.

Journal: Life (Basel, Switzerland)

Published: September 22, 2022

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Journal: Frontiers in cell and developmental biology

Published: August 17, 2022

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 12, 2022

PIGN encephalopathy: Characterizing the epileptology.

PIGN encephalopathy: Characterizing the epileptology.

Journal: Epilepsia

Published: October 05, 2021

Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.

Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.

Journal: Journal of inherited metabolic disease

Published: August 25, 2021

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.

Journal: ERJ open research

Published: May 27, 2021

New Inborn Errors of Metabolism added in the French program of neonatal screening

New Inborn Errors of Metabolism added in the French program of neonatal screening

Journal: Medecine sciences : M/S

Published: May 18, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026