Publications by authors named "Francois Labarthe"

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Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.
Alicia Guertin, Raoul Kanav Khanna, Marine Tardieu, Maud François, Hélène Blasco, François Labarthe

Mol Genet Metab Rep· December 2025

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Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study.
Mélanie Blin, Marine Tardieu, Didier Lacombe, Magali Gorce, Léna Damaj, François Labarthe

Orphanet J Rare Dis· November 2025

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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.
David Kronn, James Davison, Alexander Broomfield, Anaïs Brassier, François Labarthe

J Pediatr· October 2025

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Pantethine therapy dramatically rescues end-stage failing heart in a patient with deficiency of coenzyme A biosynthesis.
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, François Labarthe

ESC Heart Fail· August 2025

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The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.
Yann Dos Santos, Friedrich Trefz, Maria Giżewska, Annemiek M J van Wegberg, Bruno Lefort, François Labarthe

Orphanet J Rare Dis· April 2025

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Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study.
Anne-Sophie Renous, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, François Labarthe

Orphanet J Rare Dis· March 2025

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Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.
Yannick Moutapam-Ngamby-Adriaansen, François Maillot, François Labarthe, Bertrand Lioger

Orphanet J Rare Dis· February 2024

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Remodeling of lipid landscape in high fat fed very-long chain acyl-CoA dehydrogenase null mice favors pro-arrhythmic polyunsaturated fatty acids and their downstream metabolites.
Bruno Lefort, Roselle Gélinas, Anik Forest, Bertrand Bouchard, Caroline Daneault, François Labarthe

Biochim Biophys Acta Mol Basis Dis· December 2023

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Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.
Pierre Lodewyckx, Jean Issa, Margaux Gaschignard, Delphine Lamireau, Pascale De Lonlay, François Labarthe

Mol Genet Metab· December 2023

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Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Antoine Civit, Paul Gueguen, Helene Blasco, Isabelle Benz-de-Bretagne, Élodie Lebredonchel, François Labarthe

Clin Chim Acta· November 2023

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Increased acylcarnitines in infant heart failure indicate fatty acid oxidation inhibition: towards therapeutic options?
Jean Issa, Pierre Lodewyckx, Hélène Blasco, Isabelle Benz-de-Bretagne, François Labarthe

ESC Heart Fail· October 2023

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Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Marine Tardieu, Céline Cudejko, Aline Cano, Célia Hoebeke, Delphine Bernoux, François Labarthe

Eur J Neurol· September 2023

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The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
Lucie Levaillant, Natacha Bouhours-Nouet, Frédéric Illouz, Jessica Amsellem Jager, Anne Bachelot, Francois Labarthe

J Clin Endocrinol Metab· August 2023

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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, François Labarthe

Orphanet J Rare Dis· July 2023

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Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France.
Victor Maler, Violette Goetz, Marine Tardieu, Abderrahmane El Khalil, Jean Meidi Alili, François Labarthe

Orphanet J Rare Dis· June 2023

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Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Francois Labarthe

J Pediatr· March 2023

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Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Priya S Kishnani, David Kronn, Anaïs Brassier, Alexander Broomfield, James Davison, François Labarthe

Genet Med· February 2023

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Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Charles R Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher

Int J Neonatal Screen· February 2023

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Binding of heparan sulfate to human cystatin C modulates inhibition of cathepsin L: Putative consequences in mucopolysaccharidosis.
Sophie Denamur, Thibault Chazeirat, Martyna Maszota-Zieleniak, Romain R Vivès, Ahlame Saidi, François Labarthe

Carbohydr Polym· October 2022

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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, Stéphanie Torre, Laur Domitille, François Labarthe

J Med Genet· April 2022

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Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.
Magali Gorce, Elise Lebigot, Alina Arion, Anaïs Brassier, Aline Cano, François Labarthe

J Inherit Metab Dis· March 2022

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Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Francois Labarthe

J Pediatr· March 2022

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Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey.
Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Labarthe

Orphanet J Rare Dis· February 2022

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Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Imke Anne Maartje Ditters, Hidde Harmen Huidekoper, Michelle Elisabeth Kruijshaar, Dimitris Rizopoulos, Andreas Hahn, François Labarthe

Lancet Child Adolesc Health· January 2022

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Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.
Sophie Denamur, Guy Touati, Stéphane Debelleix, Léna Damaj, Magalie Barth, François Labarthe

ERJ Open Res· January 2022

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