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Journal of Inherited Metabolic Disease|March 6, 2012
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuriaOriane Leuret, Magalie Barth, Alice Kuster, 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.
Orphanet Journal of Rare Diseases|April 2, 2025
The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risksYann Dos Santos, Friedrich Trefz, Maria Giżewska, 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.
American Journal of Physiology. Heart and Circulatory Physiology|June 21, 2011
Prolonged QT interval and lipid alterations beyond β-oxidation in very long-chain acyl-CoA dehydrogenase null mouse heartsRoselle Gélinas, Julie Thompson-Legault, Bertrand Bouchard, 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.
Carbohydrate Polymers|July 7, 2022
Binding of heparan sulfate to human cystatin C modulates inhibition of cathepsin L: Putative consequences in mucopolysaccharidosisSophie Denamur, Thibault Chazeirat, Martyna Maszota-Zieleniak, 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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