Francois Labarthe

Tours, France

Last Updated: 09/26/2026

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Found 72 publications

Recurrent hemophagocytic lymphohistiocytosis in COG deficiency: a case series and systematic review of inflammatory manifestations.

Recurrent hemophagocytic lymphohistiocytosis in COG deficiency: a case series and systematic review of inflammatory manifestations.

Journal: Molecular genetics and metabolism

Published: April 02, 2026

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.

Journal: Molecular genetics and metabolism reports

Published: August 22, 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

Homocystinuria in a 14-year-old girl with neurodevelopmental delay.

Homocystinuria in a 14-year-old girl with neurodevelopmental delay.

Journal: Journal francais d'ophtalmologie

Published: July 22, 2024

The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.

The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.

Journal: The Journal of pediatrics

Published: July 05, 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

The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.

The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.

Journal: Orphanet journal of rare diseases

Published: January 16, 2024

Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.

Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.

Journal: Orphanet journal of rare diseases

Published: November 03, 2023

Pantethine therapy dramatically rescues end-stage failing heart in a patient with deficiency of coenzyme A biosynthesis.

Pantethine therapy dramatically rescues end-stage failing heart in a patient with deficiency of coenzyme A biosynthesis.

Journal: ESC heart failure

Published: October 08, 2023

Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.

Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 01, 2023

Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.

Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.

Journal: Molecular genetics and metabolism

Published: June 05, 2023

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

Journal: Orphanet journal of rare diseases

Published: April 10, 2023

Showing 1-12 of 72

Last Updated: 09/26/2026