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Critical Care Medicine|March 21, 2002
Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentationsAnnick Legras, François Labarthe, François Maillot, et al.European Journal of Pediatrics|March 9, 2006
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiencyFrançois Labarthe, Jean François Benoist, Michèle Brivet, et al.American Journal of Physiology. Heart and Circulatory Physiology|January 29, 2008
Alterations in carbohydrate metabolism and its regulation in PPARalpha null mouse heartsRoselle Gélinas, François Labarthe, Bertrand Bouchard, et al.Journal of Hepatology|June 21, 2005
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiencyFrançois Labarthe, Dries Dobbelaere, Louise Devisme, et al.Orphanet Journal of Rare Diseases|November 13, 2025
Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric studyMélanie Blin, Marine Tardieu, Didier Lacombe, et al.Annales De Biologie Clinique|October 12, 2013
[Investigation of hyperhomocysteinemia]Charlotte Veyrat-Durebex, Hélène Blasco, Julie Crinier, et al.Orphanet Journal of Rare Diseases|June 8, 2023
Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in FranceVictor Maler, Violette Goetz, Marine Tardieu, et al.Plos One|August 1, 2012
Long-chain acylcarnitines regulate the hERG channelFabio Ferro, Aude Ouillé, Truong-An Tran, et al.Journal of Inherited Metabolic Disease|December 17, 2010
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutationSarah-Louise Cottinet, Anne-Marie Bergemer-Fouquet, Annick Toutain, et al.Analytical and Bioanalytical Chemistry|November 26, 2009
Filter paper saturated by urine sample in metabolic disorders detection by proton magnetic resonance spectroscopyHélène Blasco, Marie-Ange Garrigue, Aymeric De Vos, et al.Pageof 6