Edouard Le Guillou

Paris, France

Last Updated: 09/26/2026

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Found 16 publications

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

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

Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid.

Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid.

Journal: Cellular & molecular biology letters

Published: September 12, 2025

A late diagnosis of CPT-2 deficiency

A late diagnosis of CPT-2 deficiency

Journal: La Revue de medecine interne

Published: September 08, 2025

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Journal: Journal of inherited metabolic disease

Published: August 01, 2025

Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study.

Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study.

Journal: Molecular genetics and metabolism

Published: April 10, 2025

Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.

Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.

Journal: Journal of inherited metabolic disease

Published: January 30, 2025

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Journal: Journal of inherited metabolic disease

Published: August 05, 2024

Pernicious anemia with false normal vitamin B12 levels caused by intrinsic factor antibodies interference: a case report

Pernicious anemia with false normal vitamin B12 levels caused by intrinsic factor antibodies interference: a case report

Journal: Annales de biologie clinique

Published: November 21, 2023

Class 3 PI3K coactivates the circadian clock to promote rhythmic de novo purine synthesis.

Class 3 PI3K coactivates the circadian clock to promote rhythmic de novo purine synthesis.

Journal: Nature cell biology

Published: May 30, 2022

Cholesterol accumulation induced by acetylated LDL exposure modifies the enzymatic activities of the TCA cycle without impairing the respiratory chain functionality in macrophages.

Cholesterol accumulation induced by acetylated LDL exposure modifies the enzymatic activities of the TCA cycle without impairing the respiratory chain functionality in macrophages.

Journal: Biochimie

Published: November 13, 2021

Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.

Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.

Journal: The Journal of clinical endocrinology and metabolism

Published: August 11, 2021

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Journal: Birth defects research

Published: April 14, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026