Florence Habarou

Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <i>SLC25A11</i> Gene Confer a Predisposition to Metastatic Paragangliomas

Alexandre Buffet, Aurélie Morin, Luis-Jaime Castro-Vega et al. · Cancer Research · 2018 · 132 citations · Full text

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Wladimir Mauhin, Florence Habarou, Stéphanie Gobin et al. · Orphanet Journal of Rare Diseases · 2017 · 111 citations · Full text

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

Anaïs Brassier, Stéphanie Gobin, Jean Baptiste Arnoux et al. · Orphanet Journal of Rare Diseases · 2015 · 105 citations · Full text

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Marie Coutelier, Cyril Goizet, Alexandra Dürr et al. · Brain · 2015 · 103 citations · Full text

Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Yohan Sorèze, Audrey Boutron, Florence Habarou et al. · Orphanet Journal of Rare Diseases · 2013 · 100 citations · Full text