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Journal of Inherited Metabolic Disease|June 20, 2020
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first caseFrancis Ramond, Marlène Rio, Bénédicte Héron, et al.
Biology of Sex Differences|October 22, 2025
Sex-specific benefits of a combined supplementation of B vitamins, nicotinamide riboside, folate and cobalamin, in a murine model of heart failureSolène E Boitard, Morgane Delouche, Ahmed Karoui, et al.
Human Mutation|August 6, 2013
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experienceAudrey Sabbagh, Eric Pasmant, Apolline Imbard, et al.
Journal of Human Genetics|January 30, 2015
NF1 single and multi-exons copy number variations in neurofibromatosis type 1Apolline Imbard, Eric Pasmant, Audrey Sabbagh, et al.
Gene|May 13, 2014
Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolismSoraia Poloni, Sandra Leistner-Segal, Isabel Cristina Bandeira, et al.
Neuropediatrics|December 22, 2025
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal PhosphateMarion Brands, Chloe de Puyraimond, Sidney M Gospe, et al.
Molecular Genetics and Metabolism Reports|November 17, 2022
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screeningHela Hajji, Apolline Imbard, Anne Spraul, et al.
Molecular Genetics and Metabolism|December 14, 2020
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemiaPierre-Hadrien Becker, Zeynep Demir, Yael Mozer Glassberg, et al.
Molecular Genetics and Metabolism|February 14, 2018
Long-term liver disease in methylmalonic and propionic acidemiasApolline Imbard, Nuria Garcia Segarra, Marine Tardieu, et al.
Orphanet Journal of Rare Diseases|November 15, 2022
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trialApolline Imbard, Artemis Toumazi, Sophie Magréault, et al.
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