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Orphanet Journal of Rare Diseases|May 11, 2015
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patientsAnais Brassier, Stephanie Gobin, Jean Baptiste Arnoux, et al.American Journal of Human Genetics|February 4, 2018
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron AccumulationAnthony Drecourt, Joël Babdor, Michael Dussiot, et al.Orphanet Journal of Rare Diseases|December 18, 2013
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenaseYohan Soreze, Audrey Boutron, Florence Habarou, et al.Journal of Inherited Metabolic Disease|September 1, 2017
Autism spectrum disorders in propionic acidemia patientsCaroline Dejean de la Bâtie, Valérie Barbier, Célina Roda, et al.Plos Genetics|November 14, 2014
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemiaAsmaa Mamoune, Michel Bahuau, Yamina Hamel, et al.Journal of Inherited Metabolic Disease|June 26, 2015
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrateFatima Djouadi, Florence Habarou, Carole Le Bachelier, et al.Scientific Reports|August 5, 2016
The environmental carcinogen benzo[a]pyrene induces a Warburg-like metabolic reprogramming dependent on NHE1 and associated with cell survivalKévin Hardonnière, Elise Saunier, Anthony Lemarié, et al.Cancer Research|February 13, 2018
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <i>SLC25A11</i> Gene Confer a Predisposition to Metastatic ParagangliomasAlexandre Buffet, Aurélie Morin, Luis-Jaime Castro-Vega, et al.Orphanet Journal of Rare Diseases|January 7, 2017
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthoodWladimir Mauhin, Florence Habarou, Stéphanie Gobin, et al.Orphanet Journal of Rare Diseases|October 4, 2017
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhoodElodie Hainque, Samantha Caillet, Sandrine Leroy, et al.Pageof 3