C. Cepanec

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Deficiency with Hepatomuscular Symptoms and Sudden Death Physiopathological Approach to Carnitine Palmitoyltransferase

Jean-Paul, Leroux, Colonna, 2013 .

with Hepatomuscular Symptoms and Sudden Death Physiopathological Approach to Carnitine Palmitoyltransferase 11 Deficiencies

J. Saudubray, J. Bonnefont, C. Cepanec, 1991 .

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

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

Immunoquantitative Analysis of Human Carnitine Palmitoyltransferase I and II Defects

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

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.

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.

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.

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

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

The metabolic effects of oxalate on intact red blood cells.

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

The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA.

Richard Giegé, Mark Helm, Catherine Florentz, 1998, Nucleic acids research.

The Ala16Val genetic dimorphism modulates the import of human manganese superoxide dismutase into rat liver mitochondria.

D. Pessayre, A. Sutton, F. Degoul, 2003, Pharmacogenetics.

Homozygosity for alanine in the mitochondrial targeting sequence of superoxide dismutase and risk for severe alcoholic liver disease.

D. Pessayre, B. Fromenty, D. Valla, 2001, Gastroenterology.

Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene.

C. Florentz, R. Giegé, M. Helm, 1998, Human molecular genetics.

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.

Pathophysiological approach to carnitine palmitoyltransferase II deficiencies.

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