Karine Mention-Mulliez

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand et al. · Orphanet Journal of Rare Diseases · 2012 · 43 citations · Full text

Medicine, Neurology, Neurogenetics +6

Creatine and guanidinoacetate reference values in a French population

Marie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand et al. · Molecular Genetics and Metabolism · 2013 · 38 citations

Agriculture, Nutritional Sciences, Human Nutrition +1

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

Marion Almes, Anne Spraul, Mathias Ruiz et al. · Diagnostics · 2022 · 20 citations · Full text

Medicine, Genetics, Pediatrics +14

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 Storstein Andresen et al. · Orphanet Journal of Rare Diseases · 2010 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders

Anne‐Frédérique Dessein, Monique Fontaine, Dries Dobbelaere et al. · Clinica Chimica Acta · 2009 · 17 citations

Life Sciences, Biochemistry, Molecular Medicine +17