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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.192. ⟨10.1186/1750-1172-8-192⟩
Journal articles
inserm-00938361v1
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A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhoodOrphanet Journal of Rare Diseases, 2016, 12 (1), pp.160. ⟨10.1186/s13023-017-0713-2⟩
Journal articles
inserm-01612741v1
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Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.148. ⟨10.1186/1750-1172-8-148⟩
Journal articles
inserm-00878363v1
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Identification of Modulators of the C. elegans Aryl Hydrocarbon Receptor and Characterization of Transcriptomic and Metabolic AhR-1 ProfilesAntioxidants , 2022, 11 (5), pp.1030. ⟨10.3390/antiox11051030⟩
Journal articles
hal-03745310v1
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