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M Brivet

Showing results (41-50 of 48) with videos related to

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Molecular Genetics and Metabolism|March 22, 2003
Impaired mitochondrial pyruvate importation in a patient and a fetus at riskM Brivet, A Garcia-Cazorla, S Lyonnet, et al.
Neuromuscular Disorders : NMD|March 29, 2000
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patientL Thuillier, C Sevin, F Demaugre, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
Molecular Genetics and Metabolism|October 6, 1998
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiencyB Z Yang, J H Ding, T Dewese, et al.
Molecular Genetics and Metabolism|September 15, 2011
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 proteinA Imbard, A Boutron, C Vequaud, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
Recognition and management of fatty acid oxidation defects: a series of 107 patientsJ M Saudubray, D Martin, P de Lonlay, et al.
Revue Neurologique|April 4, 2016
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic diseaseA Béhin, C Acquaviva-Bourdain, S Souvannanorath, et al.
Molecular Genetics and Metabolism|May 10, 2011
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiencyA Boutron, C Acquaviva, C Vianey-Saban, et al.
Pageof 5

Showing results (41-50 of 48) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 48 results.
Molecular Genetics and Metabolism|March 22, 2003
Impaired mitochondrial pyruvate importation in a patient and a fetus at riskM Brivet, A Garcia-Cazorla, S Lyonnet, et al.
Neuromuscular Disorders : NMD|March 29, 2000
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patientL Thuillier, C Sevin, F Demaugre, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
Molecular Genetics and Metabolism|October 6, 1998
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiencyB Z Yang, J H Ding, T Dewese, et al.
Molecular Genetics and Metabolism|September 15, 2011
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 proteinA Imbard, A Boutron, C Vequaud, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
Recognition and management of fatty acid oxidation defects: a series of 107 patientsJ M Saudubray, D Martin, P de Lonlay, et al.
Revue Neurologique|April 4, 2016
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic diseaseA Béhin, C Acquaviva-Bourdain, S Souvannanorath, et al.
Molecular Genetics and Metabolism|May 10, 2011
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiencyA Boutron, C Acquaviva, C Vianey-Saban, et al.
Pageof 5