Concepedia
Statistics
Publications
8
Citations
174
H-Index
Active since
2011
Affiliations
Inserm(Current)
Université de Rouen Normandie
Normandie Université
Assistance Publique – Hôpitaux de Paris
Hôpital Necker-Enfants Malades
Stéphanie Torre is an author at Inserm specializing in medicine, pregnancy, and public health.
Top concepts
MedicineNeurologyPregnancyImmunologyPhysiologyNeuroscienceNeurogeneticsPublic HealthNeuropathologyMaternal Health
Publications per year
2011–2022
Clinical and biological characterization of 20 patients with <scp>TANGO2</scp> deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Claire‐Marine Bérat, Sebastián Montealegre, Arnaud Wiedemann et al. · Journal of Inherited Metabolic Disease · 2020 · 41 citations
Pyridoxine-dependent epilepsy: report on three families with neuropathology
Florent Marguet, Hager Barakizou, Abdellah Tebani et al. · Metabolic Brain Disease · 2016 · 33 citations
Neurophysiology, Neurological Disorder, Neuropharmacology +8
Long term outcome of <scp>MPI‐CDG</scp> patients on D‐mannose therapy
M Girard, Claire Douillard, Dominique Debray et al. · Journal of Inherited Metabolic Disease · 2020 · 27 citations
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria
Lénaïg Abily-Donval, Stéphanie Torre, Aurélie Samson et al. · International Journal of Molecular Sciences · 2017 · 17 citations · Full text
Movement disorders in valine métabolism diseases caused by <scp><i>HIBCH</i></scp> and <scp><i>ECHS1</i></scp> deficiencies
Marie‐Céline François‐Heude, Élise Lebigot, Emmanuel Roze et al. · European Journal of Neurology · 2022 · 17 citations · Full text
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