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Molecular Genetics and Metabolism|June 10, 2026
Recurrent hemophagocytic lymphohistiocytosis in COG deficiency: a case series and systematic review of inflammatory manifestationsAntoine de Laitre, Magalie Barth, François Labarthe, et al.
Orphanet Journal of Rare Diseases|November 13, 2025
Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric studyMélanie Blin, Marine Tardieu, Didier Lacombe, et al.
Orphanet Journal of Rare Diseases|June 8, 2023
Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in FranceVictor Maler, Violette Goetz, Marine Tardieu, et al.
Clinical Genetics|April 4, 2019
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patientsDominique P Germain, Alain Fouilhoux, Stéphane Decramer, et al.
Biochimica Et Biophysica Acta|February 19, 2014
Cardiolipin content is involved in liver mitochondrial energy wasting associated with cancer-induced cachexia without the involvement of adenine nucleotide translocaseCloé Mimsy Julienne, Marine Tardieu, Stéphan Chevalier, et al.
ERJ Open Research|February 10, 2022
Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patientsSophie Denamur, Guy Touati, Stéphane Debelleix, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 11, 2017
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblastsBruno Lefort, Elodie Gouache, Cécile Acquaviva, et al.
JIMD Reports|October 3, 2015
Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase DeficiencyJulie Chantreuil, Géraldine Favrais, Nadine Fakhri, et al.
Molecular Genetics and Metabolism Reports|December 16, 2025
Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathyAlicia Guertin, Raoul Kanav Khanna, Marine Tardieu, et al.
Orphanet Journal of Rare Diseases|April 1, 2025
Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric studyAnne-Sophie Renous, Lena Damaj, Magali Gorce, et al.
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