1. Autism spectrum disorders in propionic acidemia patients. Issue 4 (30th August 2017) Authors: de la Bâtie, Caroline Dejean; Barbier, Valérie; Roda, Célina; Brassier, Anaïs; Arnoux, Jean‐Baptiste; Valayannopoulos, Vassili; Guemann, Anne‐Sophie; Pontoizeau, Clément; Gobin, Stéphanie; Habarou, Florence; Lacaille, Florence; Bonnefont, Jean‐Paul; Canouï, Pierre; Ottolenghi, Chris; De Lonlay, P... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 4(2018) Page Start: 623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. Issue 2 (28th September 2020) Authors: Bérat, Claire‐Marine; Montealegre, Sebastian; Wiedemann, Arnaud; Nuzum, Malou Le Corronc; Blondel, Amélie; Debruge, Hugo; Cano, Aline; Chabrol, Brigitte; Hoebeke, Célia; Polak, Michel; Stoupa, Athanasia; Feillet, François; Torre, Stéphanie; Boddaert, Nathalie; Bruel, Henri; Barth, Magalie; Damaj,... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. Issue 1 (18th September 2017) Authors: Kuster, Alice; Arnoux, Jean‐Baptiste; Barth, Magalie; Lamireau, Delphine; Houcinat, Nada; Goizet, Cyril; Doray, Bérénice; Gobin, Stéphanie; Schiff, Manuel; Cano, Aline; Amsallem, Daniel; Barnerias, Christine; Chaumette, Boris; Plaze, Marion; Slama, Abdelhamid; Ioos, Christine; Desguerre, Isabelle... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria. (1st April 2018) Authors: Grotto, Sarah; Sudrié-Arnaud, Bénédicte; Drouin-Garraud, Valérie; Nafeh-Bizet, Catherine; Chadefaux-Vekemans, Bernadette; Gobin, Stéphanie; Bekri, Soumeya; Tebani, Abdellah Journal: Clinical chemistry Issue: Volume 64:Number 4(2018) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022) Authors: Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F... Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022) Authors: Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F... Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (February 2022) Authors: Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F... Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. Issue 1 (December 2017) Authors: Mauhin, Wladimir; Habarou, Florence; Gobin, Stéphanie; Servais, Aude; Brassier, Anaïs; Grisel, Coraline; Roda, Célina; Pinto, Graziella; Moshous, Despina; Ghalim, Fahd; Krug, Pauline; Deltour, Nelly; Pontoizeau, Clément; Dubois, Sandrine; Assoun, Murielle; Galmiche, Louise; Bonnefont, Jean-Paul; ... Journal: Orphanet journal of rare diseases Issue: Volume 12:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗