Karine Mention

Lille, France

Last Updated: 09/26/2026

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Found 41 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

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.

Journal: American journal of medical genetics. Part A

Published: October 03, 2024

Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.

Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: July 30, 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

Newborn screening in France: news and perspectives

Newborn screening in France: news and perspectives

Journal: Annales de biologie clinique

Published: April 19, 2024

Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience.

Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience.

Journal: Pediatric blood & cancer

Published: March 10, 2024

Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.

Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.

Journal: Frontiers in genetics

Published: December 07, 2023

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Journal: Neurology. Genetics

Published: December 04, 2023

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Journal: Hepatology (Baltimore, Md.)

Published: March 17, 2023

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Published: March 09, 2023

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

Journal: European journal of neurology

Published: January 05, 2023

Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients.

Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients.

Journal: Journal of inherited metabolic disease

Published: August 30, 2022

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Last Updated: 09/26/2026