F. Demaugre

发表

Identification of cellular targets in human intrahepatic cholangiocarcinoma using laser microdissection and AMT-tag proteomics.

J. Garin, D. Samuel, C. Masselon, 2010 .

Defects in activation and transport of fatty acids

D. Rabier, J. Saudubray, A. Slama, 1999, Journal of Inherited Metabolic Disease.

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

D. Rabier, J. Saudubray, P. Kamoun, 2000, Neuromuscular Disorders.

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

S. Pande, J. Saudubray, A. Slama, 1993, The Journal of clinical investigation.

Infantile Form of Carnitine Palmitoyltransferase 11 Deficiency with Hepatomuscular Symptoms and Sudden Death

F. Demaugre, C. Cepanec, M. Colonna, 2022 .

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

M. Dadlez, M. Cahill, J. Debski, 2004, Proteomics.

Immunoquantitative Analysis of Human Carnitine Palmitoyltransferase I and II Defects

J. Saudubray, J. Bonnefont, F. Demaugre, 1990, Pediatric Research.

Influence of oxalate on the rate of the tricarboxylic acid cycle in rat hepatocytes.

A. Moncion, H. Buc, F. Demaugre, 1983, Biochimica et biophysica acta.

Effects of oxalate and dichloroacetate on lipogenesis and ketogenesis in rat hepatocytes.

A. Moncion, H. Buc, F. Demaugre, 1982, Biochemical and biophysical research communications.

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

J. Saudubray, J. Bonnefont, F. Demaugre, 1991, The Journal of clinical investigation.

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

J. Saudubray, J. Bonnefont, M. Brivet, 2003, Human mutation.

Comparison of the effects of 2-chloropropionate and dichloroacetate on ketogenesis and lipogenesis in isolated rat hepatocytes.

A. Moncion, H. Buc, F. Demaugre, 1983, Biochemical pharmacology.

Novel cellular targets in human intrahepatic cholangiocarcinoma

J. Garin, C. Masselon, C. Bréchot, 2010 .

Dichloroacetate as treatment for congenital lactic acidosis.

J. Saudubray, F. Coudé, C. Marsac, 1978, The New England journal of medicine.

Characterization of oxalate as a catabolite of dichloroacetate responsible for the inhibition of gluconeogenesis and pyruvate carboxylation in rat liver cells.

F. Demaugre, C. Cepanec, J. Leroux, 1978, Biochemical and biophysical research communications.

The effects of pyruvate concentration, dichloroacetate and alpha-cyano-4-hydroxycinnamate on gluconeogenesis, ketogenesis and [3-hydroxybutyrate]/[3-oxobutyrate] ratios in isolated rat hepatocytes.

F. Demaugre, J. Leroux, P. Cartier, 1978, The Biochemical journal.

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

D. Millington, C. Roe, A. Legrand, 1996, Journal of Inherited Metabolic Disease.

Metabolic consequences of pyruvate kinase inhibition by oxalate in intact rat hepatocytes.

A. Moncion, H. Buc, F. Demaugre, 1981, Biochimie.

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

F. Taroni, J. Saudubray, J. Bonnefont, 1996, American journal of human genetics.

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency.

S. Cederbaum, J. Saudubray, J. Edmond, 1992, The New England journal of medicine.

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

S. Donato, J. Saudubray, M. Rimoldi, 1988, Pediatric Research.

HIP/PAP, a C-type lectin overexpressed in hepatocellular carcinoma, binds the RII alpha regulatory subunit of cAMP-dependent protein kinase and alters the cAMP-dependent protein kinase signalling.

L. Christa, C. Bréchot, F. Demaugre, 2004, European journal of biochemistry.

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts Tissue specific isoforms of CPT1?

I. Tein, J. Saudubray, J. Bonnefont, 1989, Journal of the Neurological Sciences.

Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

J. Girard, C. Greenberg, P. Kamoun, 2001, Molecular genetics and metabolism.

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency.

E. Holme, O. Elpeleg, J. Saudubray, 1993, The Journal of pediatrics.

Approach to the patient with a fatty acid oxidation disorder.

A. Munnich, D. Rabier, J. Saudubray, 1992, Progress in clinical and biological research.

Carnitine palmitoyltransferase deficiencies.

J. Saudubray, J. Bonnefont, J M Saudubray, 1999, Molecular genetics and metabolism.

Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family.

P. Coates, J. Haworth, F. Booth, 1992, The Journal of pediatrics.

The metabolic effects of oxalate on intact red blood cells.

H. Buc, F. Demaugre, C. Cepanec, 1980, Biochimica et Biophysica Acta.

The kinetic effects of oxalate on liver and erythrocyte pyruvate kinases.

H. Buc, F. Demaugre, J. Leroux, 1978, Biochemical and biophysical research communications.

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders

A. Poulos, J. Saudubray, O. Skjeldal, 2004, Human Genetics.

Hepatitis C virus core protein binds to apolipoprotein AII and its secretion is modulated by fibrates

M. Kohara, A. Sabile, C. Bréchot, 1999, Hepatology.

[Familial diphosphoglycerate mutase deficiency: hematological and biochemical study].

D. Labie, A. Najman, F. Demaugre, 1972, Nouvelle revue francaise d'hematologie.

Identification of Cellular Targets in Human Intrahepatic Cholangiocarcinoma Using Laser Microdissection and Accurate Mass and Time Tag Proteomics*

Didier Samuel, Jérôme Garin, Magali Court, 2010, Molecular & Cellular Proteomics.

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

C. Stanley, D. Hale, J. Saudubray, 1992, Journal of Inherited Metabolic Disease.

Role of the mitochondrial metabolism of pyruvate on the regulation of ketogenesis in rat hepatocytes.

J. Girard, H. Buc, F. Demaugre, 1983, Metabolism: clinical and experimental.

Evidence for an impaired long-chain fatty acid oxidation and ketogenesis in Fao hepatoma cells.

J. Girard, J. Pégorier, C. Kohl, 1992, European journal of biochemistry.

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

S. Cederbaum, W. Nyhan, J. Girard, 2002, Human Genetics.

Deficiency of Carnitine Palmitoyltransferase I

W. Nyhan, J. Saudubray, J. Carroll, 1989, Journal of child neurology.

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

D. Rabier, C. Roe, M. Brivet, 1998, Molecular genetics and metabolism.

Contribution of laser microdissection‐based technology to proteomic analysis in hepatocellular carcinoma developing on cirrhosis

C. Bréchot, M. Bralet, B. Ducot, 2007, Proteomics. Clinical applications.

[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form].

J. Frézal, J. Saudubray, J. Bonnefont, 1985, Archives francaises de pediatrie.

The effect of adenosine and chloroadenosine on sex differences in the energy metabolism of rat hepatocytes.

A. Moncion, H. Buc, F. Demaugre, 1986, Biochimica et biophysica acta.

Evaluation of isolated human hepatocytes.

P. Beaune, D. Houssin, T. Cresteil, 1983, Life sciences.

Complementation Analysis of Carnitine Palmitoyltransferase I and II Defects

A. Legrand, J. Saudubray, A. Slama, 1996, Pediatric Research.

The effect of D-carnitine on palmitate oxidation in cultured fibroblasts.

J. Saudubray, A. Pellet, F. Demaugre, 1984, Clinica chimica acta; international journal of clinical chemistry.

Pathophysiological approach to carnitine palmitoyltransferase II deficiencies.

J. Saudubray, J. Bonnefont, M. Brivet, 1992, Progress in clinical and biological research.

Inborn errors of metabolism in the light of metabolic control analysis.

J. Mazat, B. Korzeniewski, M. Malgat, 1998, Biochemical Society transactions.