Véronique Droin

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Laure Thuillier, Hidayeth Rostane, Véronique Droin et al. · Human Mutation · 2003 · 109 citations

Lcfa Oxidation, Metabolic Disorder, Genetics +20

Correction of Fatty Acid Oxidation in Carnitine Palmitoyl Transferase 2–Deficient Cultured Skin Fibroblasts by Bezafibrate

Fatima Djouadi, Jean‐Paul Bonnefont, Laure Thuillier et al. · Pediatric Research · 2003 · 59 citations · Full text

Skin Development, Biochemistry, Natural Sciences +10

Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community

Carina Prip‐Buus, Laure Thuillier, Nourredine Abadi et al. · Molecular Genetics and Metabolism · 2001 · 54 citations

Biotransformation, Cellular Enzymology, Biochemistry +8

Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient

Laure Thuillier, Caroline Sevin, France Demaugre et al. · Neuromuscular Disorders · 2000 · 27 citations

Genotype/phenotype Correlation, Genetic Determinant, Mendelian Disorder +9

Free amino acids in human fetal plasma

P Kamoun, Véronique Droin, F Forestier et al. · Clinica Chimica Acta · 1985 · 23 citations

Human Fetal Plasma, Biochemistry, Physiology +6