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Molecular Genetics and Metabolism Reports|April 18, 2025
Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature reviewEtienne Mondésert, Juliette Bouchereau, Manuel Schiff, et al.
Clinical Genetics|October 5, 2024
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar PathologiesAntonia M Stehr, Jerica Lenberg, Jennifer Friedman, et al.
Biochimie|May 26, 2022
Cholesterol accumulation induced by acetylated LDL exposure modifies the enzymatic activities of the TCA cycle without impairing the respiratory chain functionality in macrophagesPierre-Hadrien Becker, Edouard Le Guillou, Mathilde Duque, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
New spastic paraplegia phenotype associated to mutation of NFU1Davide Tonduti, Imen Dorboz, Apolline Imbard, et al.
Molecular Genetics and Metabolism Reports|March 21, 2020
Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situationCamille Desprairies, Apolline Imbard, Bérengère Koehl, et al.
Bioscience Reports|July 17, 2015
High homocysteine induces betaine depletionApolline Imbard, Jean-François Benoist, Ruben Esse, et al.
JIMD Reports|April 22, 2026
Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine TherapyChloé de Puyraimond, Samia Pichard, Muriel Girard, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Citrulline in the management of patients with urea cycle disordersApolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 18, 2014
Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiencyRuben Esse, Apolline Imbard, Cristina Florindo, et al.
Biochimica Et Biophysica Acta|May 28, 2013
Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemiaRuben Esse, Cristina Florindo, Apolline Imbard, et al.
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