Get started
Author

Stéphanie Torre

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
2020 · Claire‐Marine Bérat, Sebastian Montealegre, et al. · Journal of Inherited Metabolic Disease · 50
Pyridoxine-dependent epilepsy: report on three families with neuropathology
2016 · Florent Marguet, Hager Barakizou, et al. · Metabolic Brain Disease · 37
Long term outcome of MPI‐CDG patients on D‐mannose therapy
2020 · Muriel Girard, Claire Douillard, et al. · Journal of Inherited Metabolic Disease · 29
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
2022 · Marie‐Céline François‐Heude, Elise Lebigot, et al. · European Journal of Neurology · 19
Parcours et développement neurologique et comportemental de l’enfant prématuré
2014 · S. Marret, C. Chollat, et al. · Archives de Pédiatrie · 19
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria
2017 · Lenaig Abily-Donval, Stéphanie Torre, et al. · International Journal of Molecular Sciences · 18
PDF
Comparison in Outcomes at Two-Years of Age of Very Preterm Infants Born in 2000, 2005 and 2010
2015 · Lénaïg Abily-Donval, Gaëlle Pinto-Cardoso, et al. · PLoS ONE · 16
PDF
Alanyl-glutamine restores maternal deprivation-induced TLR4 levels in a rat neonatal model
2011 · Khaly Mbodji, Stéphanie Torre, et al. · Clinical Nutrition · 14
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency
2015 · Jennifer Lagoutte-Renosi, Isabelle Ségalas-Milazzo, et al. · JIMD Reports · 13
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family
2021 · Sarah Snanoudj, Stéphanie Torre, et al. · International Journal of Molecular Sciences · 8
PDF
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
2021 · Abdellah Tebani, Bénédicte Sudrié-Arnaud, et al. · Journal of Medical Genetics · 5
PDF
Acute Respiratory Infection Unveiling CPT II Deficiency
2018 · Nicolas Blah, Bénédicte Sudrié-Arnaud, et al. · International Journal of Molecular Sciences · 5
PDF
Évaluation de l’utilisation du sulfate de magnésium dans la prévention secondaire de l’éclampsie : étude rétrospective sur 39 cas
2012 · B. Bourret, V. Compère, et al. · Annales Françaises d Anesthésie et de Réanimation · 5
Compared outcomes of very preterm infants born in 2000 and 2005
2012 · Anne‐Marie Guerrot, Alexandra Chadie, et al. · Acta Paediatrica · 5
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies
2026 · Florence Riccardi, Béatrice Desnous, et al. · Neurology · 3
Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases
2026 · Abdellah Tebani, David Guenet, et al. · Communications Medicine
Autophagy modulation enhances enzyme replacement therapy response in Fabry disease
2021 · Lénaig Abily-Donval, Frédéric Barbey, et al. · bioRxiv (Cold Spring Harbor Laboratory)
PDF
Discordances multiples entre dépistage de la trisomie 21 sur ADN libre circulant, caryotype et échographie fœtale compliquant la prise en charge de la grossesse
2019 · Kévin Cassinari, Géraldine Joly-Helas, et al. · Morphologie
SFP PC-79 – Place de l’Exsanguino-transfusion dans la coqueluche maligne
2014 · G. Pinto Cardoso, A. Labarre, et al. · Archives de Pédiatrie
Résultats de l'entretien maternel de l'Etude Epidémiologique Epipage 2 En Haute-Normandie
2013 · Stéphane Marret, Loı̈c Marpeau, et al.
P271 Effect of Glutamine Supplementation on Gut Dysfunction in a Rat Model of Neonatal Maternal Deprivation
2009 · K. Mbodji, S. Torre, et al. · Clinical Nutrition Supplements
Works count: 23
Citation count: 246
H-index: 9
I10-index: 9
Year
Topic
Type