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Author: personID (integer) : 941479
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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.

Yohan Soreze , Audrey Boutron , Florence Habarou , Christine Barnerias , Luc Nonnenmacher et al.
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 childhood

Elodie Hainque , Samantha Caillet , Sandrine Leroy , Constance Flamand-Roze , Isaac Mawusi Adanyeguh et al.
Orphanet 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.

Mathilde Nizon , Chris Ottolenghi , Vassili Valayannopoulos , Jean-Baptiste Arnoux , Valérie Barbier et al.
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 Profiles

Lucie Larigot , Linh-Chi Bui , Marine de Bouvier , Ophélie Pierre , Grégory Pinon et al.
Antioxidants , 2022, 11 (5), pp.1030. ⟨10.3390/antiox11051030⟩
Journal articles hal-03745310v1