1. 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) ↗
2. 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) ↗
3. 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) ↗
4. Fructose 1, 6‐bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. Issue 5 (20th January 2015) Authors: Lebigot, Elise; Brassier, Anaïs; Zater, Mokhtar; Imanci, Dilek; Feillet, François; Thérond, Patrice; de Lonlay, Pascale; Boutron, Audrey Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 881 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fructose‐1, 6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up. Issue 2 (1st December 2021) Authors: Gorce, Magali; Lebigot, Elise; Arion, Alina; Brassier, Anaïs; Cano, Aline; De Lonlay, Pascale; Feillet, François; Gay, Claire; Labarthe, François; Nassogne, Marie‐Cécile; Roche, Sandrine; Roubertie, Agathe; Sacaze, Elise; Touati, Guy; Broué, Pierre Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 2(2022) Page Start: 215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory. (6th December 2021) Authors: Chappell, Kenneth; Francou, Bruno; Habib, Christophe; Huby, Thomas; Leoni, Marco; Cottin, Aurélien; Nadal, Florian; Adnet, Eric; Paoli, Eric; Oliveira, Christophe; Verstuyft, Céline; Davit-Spraul, Anne; Gaignard, Pauline; Lebigot, Elise; Duclos-Vallee, Jean-Charles; Young, Jacques; Kamenicky, Pet... Journal: Clinical chemistry Issue: Volume 68:Number 2(2022) Page Start: 313 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies. (9th August 2022) Authors: François‐Heude, Marie‐Céline; Lebigot, Elise; Roze, Emmanuel; Warde, Marie Thérèse Abi; Cances, Claude; Damaj, Lena; Espil, Caroline; Fluss, Joel; de Lonlay, Pascale; Kern, Ilse; Lenaers, Guy; Munnich, Arnold; Meyer, Pierre; Spitz, Marie‐Aude; Torre, Stéphanie; Doummar, Diane; Touati, Guy; Lebouc... Journal: European journal of neurology Issue: Volume 29:Number 11(2022) Page Start: 3229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Recurrent Liver Failure in an 11-Year-Old Boy. (3rd August 2020) Authors: Neveu, Julien; Hoebeke, Célia; Lebigot, Elise; Naïmi, Mourad Journal: Clinical chemistry Issue: Volume 66:Number 8(2020) Page Start: 1115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗