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JIMD Reports
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February 23, 2013
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance
Nadia Esseghir, Chiraz Souissi Bouchlaka, Sondess Hadj Fredj, et al.
Analytical Biochemistry
|
May 1, 2017
A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes
Jean-Claude Vienne, Catherine Cimetta, Marie Dubois, et al.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
A novel <i>HADHA</i> variant associated with an atypical moderate and late-onset LCHAD deficiency
Anne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, et al.
Orphanet Journal of Rare Diseases
|
October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
Anne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.
Molecular Genetics and Metabolism
|
February 27, 2018
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency
Monique Fontaine, Isabelle Kim, Anne-Frédérique Dessein, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 24, 2017
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants
Anne-Frédérique Dessein, Monique Fontaine, Marie Joncquel-Chevalier Curt, et al.
Biochimica Et Biophysica Acta
|
August 10, 2013
Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts
Caroline Michot, Asmaa Mamoune, Joseph Vamecq, et al.
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Search research articles
Search
Showing results (11-20 of 17) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 17 results.
JIMD Reports
|
February 23, 2013
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance
Nadia Esseghir, Chiraz Souissi Bouchlaka, Sondess Hadj Fredj, et al.
Analytical Biochemistry
|
May 1, 2017
A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes
Jean-Claude Vienne, Catherine Cimetta, Marie Dubois, et al.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
A novel <i>HADHA</i> variant associated with an atypical moderate and late-onset LCHAD deficiency
Anne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, et al.
Orphanet Journal of Rare Diseases
|
October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
Anne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.
Molecular Genetics and Metabolism
|
February 27, 2018
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency
Monique Fontaine, Isabelle Kim, Anne-Frédérique Dessein, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 24, 2017
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants
Anne-Frédérique Dessein, Monique Fontaine, Marie Joncquel-Chevalier Curt, et al.
Biochimica Et Biophysica Acta
|
August 10, 2013
Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts
Caroline Michot, Asmaa Mamoune, Joseph Vamecq, et al.
Page
of 2