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

Laure Thuillier, Hidayeth Rostane, Véronique Droin, +7

Human Mutation

Lcfa OxidationMetabolic DisorderGeneticsClinical PresentationHuman Polymorphism +18

Phenotypic and functional characteristics of human newborns' B lymphocytes.

Anne Durandy, Laure Thuillier, Monique Forveille, +1

The Journal of Immunology

Lymphocyte DevelopmentImmunologyB Cell CharacteristicsImmune SystemImmunotherapy +15

Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency

Stéphanie Gobin, Laure Thuillier, G. Jogl, +6

Journal of Biological Chemistry

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

Fatima Djouadi, Jean‐Paul Bonnefont, Laure Thuillier, +4

Pediatric Research

Skin DevelopmentBiochemistryNatural SciencesCutaneous BiologyCultured Skin Fibroblasts +8

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

Carina Prip‐Buus, Laure Thuillier, Nourredine Abadi, +12

Molecular Genetics and Metabolism

BiotransformationCellular EnzymologyBiochemistryBiochemical TaxonomyMedicine +6

Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

Stéphanie Gobin, Jean‐Paul Bonnefont, Carina Prip‐Buus, +14

Human Genetics

BiochemistryGenetic DisorderNatural SciencesGeneticsNovel Mutations +6

Hepatic Carnitine Palmitoyl Transferase 1 (CPT1 A) Deficiency in North American Hutterites (Canadian and American): Evidence for a Founder Effect and Results of a Pilot Study on a DNA-Based Newborn Screening Program

C. Prasad, John P. Johnson, Jean‐Paul Bonnefont, +11

Molecular Genetics and Metabolism

Genetic TestingHepatologyCpt1 AGenetic DisorderLiver Physiology +7

Ligation of CD4 Surface Antigen Induces Rapid Tyrosine Phosphorylation of the Cytoskeletal Protein Ezrin

Laure Thuillier, Claire Hivroz, Rémi Fagard, +2

Cellular Immunology

Signal TransductionNatural SciencesCytoskeletal Protein EzrinImmunologyEndocytic Pathway +9

Metabolism of pyrimidine bases and nucleosides by pyrimidine-nucleoside phosphorylases in cultured human lymphoid cells

Jean‐Louis Pérignon, Dominique Bories, Anne‐Marie Houllier, +2

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

BiochemistryNatural SciencesMolecular BiologyPyrimidine-nucleoside PhosphorylasesPyrimidine Bases +1

Measurement of inorganic pyrophosphate in biological fluids and bone tissues

P Cartier, Laure Thuillier

Analytical Biochemistry

BiochemistryBioanalysisPhysiologySkeletal BiologyAnalytical Chemistry +8