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France Demaugre

Carnitine Palmitoyltransferase Deficiencies
1999 · Jean-Paul Bonnefont, France Demaugre, et al. · Molecular Genetics and Metabolism · 229
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.
1991 · F Demaugre, J P Bonnefont, et al. · Journal of Clinical Investigation · 198
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Hepatitis C virus core protein binds to apolipoprotein AII and its secretion is modulated by fibrates
1999 · Abdelmajid Sabile, Gabriel Perlemuter, et al. · Hepatology · 171
Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities
1988 · France Demaugre, Jean-Paul Bonnefont, et al. · Pediatric Research · 131
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
2003 · Laure Thuillier, Hidayeth Rostane, et al. · Human Mutation · 110
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
1993 · S V Pande, M Brivet, et al. · Journal of Clinical Investigation · 109
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Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
1996 · J P Bonnefont, F Taroni, et al. · PubMed Central · 88
Defects in activation and transport of fatty acids
1999 · M. Brivet, A. Boutron, et al. · Journal of Inherited Metabolic Disease · 64
Global proteomic approach unmasks involvement of keratins 8 and 18 in the delivery of cystic fibrosis transmembrane conductance regulator (CFTR)/ΔF508‐CFTR to the plasma membrane
2004 · Noélie Davezac, Danielle Tondelier, et al. · PROTEOMICS · 58
Identification of Cellular Targets in Human Intrahepatic Cholangiocarcinoma Using Laser Microdissection and Accurate Mass and Time Tag Proteomics
2010 · Alexandre Dos Santos, Magali Court, et al. · Molecular & Cellular Proteomics · 55
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Renal Tubular Acidosis in Carnitine Palmitoyltransferase Type 1 Deficiency
1992 · Zipora C. Falik-Borenstein, Stanley C. Jordan, et al. · New England Journal of Medicine · 55
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Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community
2001 · Carina Prip-Buus, Laure Thuillier, et al. · Molecular Genetics and Metabolism · 53
Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia
2002 · Stéphanie Gobin, Jean-Paul Bonnefont, et al. · Human Genetics · 52
Immunoquantitative Analysis of Human Carnitine Palmitoyltransferase I and II Defects
1990 · France Demaugre, Jean-Paul Bonnefont, et al. · Pediatric Research · 49
Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase‐1 deficiency
1991 · C. A. Stanley, F. Sunaryo, et al. · Journal of Inherited Metabolic Disease · 47
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders
1989 · Bwee Tien Poll-The, Ola H. Skjeldal, et al. · Human Genetics · 47
Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts
1989 · Ingrid Tein, France Demaugre, et al. · Journal of the Neurological Sciences · 46
Dichloroacetate as Treatment for Congenital Lactic Acidosis
1978 · F X Coude, J M Saudubray, et al. · New England Journal of Medicine · 44
Evidence for an impaired long‐chain fatty acid oxidation and ketogenesis in Fao hepatoma cells
1992 · Carina PRIP‐BUUS, Anne‐Claire BOUTHILLIER‐VOISIN, et al. · European Journal of Biochemistry · 41
Deficiency of Carnitine Palmitoyltransferase I
1989 · J.P. Bonnefont, Richard Haas, et al. · Journal of Child Neurology · 35
Characterization of oxalate as a catabolite of dichloroacetate responsible for the inhibition of gluconeogenesis and pyruvate carboxylation in rat liver cells
1978 · France Demaugre, Claude Cepanec, et al. · Biochemical and Biophysical Research Communications · 35
Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family
1992 · James C. Haworth, France Demaugre, et al. · The Journal of Pediatrics · 33
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient
2000 · L. Thuillier, C. Sevin, et al. · Neuromuscular Disorders · 28
Identification of Four Novel Mutations in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency
1998 · Bing-Zhi Yang, Jia-Huan Ding, et al. · Molecular Genetics and Metabolism · 28
The effects of pyruvate concentration, dichloroacetate and α-cyano-4-hydroxycinnamate on gluconeogenesis, ketogenesis and [3-hydroxybutyrate]/[3-oxobutyrate] ratios in isolated rat hepatocytes
1978 · F Demaugre, J P Leroux, et al. · Biochemical Journal · 27
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Works count: 61
Citation count: 2,145
H-index: 25
I10-index: 37
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