1. 5-Fluorouracil rechallenge after 5-fluorouracil-induced hyperammonemic encephalopathy. Issue 3 (March 2019) Authors: Boilève, Alice; Wicker, Camille; Verret, Benjamin; Leroy, Florence; Malka, David; Jozwiak, Mathieu; Pontoizeau, Clément; Ottolenghi, Chris; De Lonlay, Pascale; Ducreux, Michel; Hollebecque, Antoine Journal: Anti-cancer drugs Issue: Volume 30:Issue 3(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error. Issue 1 (3rd January 2020) Authors: Tuchmann‐Durand, Caroline; Thevenet, Eloise; Moulin, Florence; Lesage, Fabrice; Bouchereau, Juliette; Oualha, Mehdi; Khraiche, Diala; Brassier, Anaïs; Wicker, Camille; Gobin‐Limballe, Stéphanie; Arnoux, Jean‐Baptiste; Lacaille, Florence; Wicart, Clotilde; Coat, Bruno; Schlattler, Joel; Cisternino... Journal: JIMD reports Issue: Volume 51:Issue 1(2020) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Issue 12 (27th September 2017) Authors: Schiff, Manuel; Roda, Céline; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anaïs; Brice, Alexis; Bruneel, Arnaud; Buissonnière, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Dai... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Formulation and stability study of hydroxychloroquine sulfate oral suspensions. (16th March 2021) Authors: El Mershati, Sarah; Thouvenin, Agathe; Secretan, Philippe-Henri; De Lonlay, Pascale; Tuchmann-Durand, Caroline; Cisternino, Salvatore; Schlatter, Joël Journal: Pharmaceutical development and technology Issue: Volume 26:Number 3(2021) Page Start: 328 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management. Issue 7 (22nd June 2007) Authors: Hussain, Khalid; Blankenstein, Oliver; De Lonlay, Pascale; Christesen, Henrik T Journal: Archives of disease in childhood Issue: Volume 92:Issue 7(2007) Page Start: 568 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients. Issue 1 (25th November 2019) Authors: Moravej, Hossein; Altassan, Ruqaiah; Jaeken, Jaak; Enns, Gregory M.; Ellaway, Carolyn; Balasubramaniam, Shanti; De Lonlay, Pascale; Coman, David; Mercimek‐Andrews, Saadet; Witters, Peter; Morava, Eva Journal: JIMD reports Issue: Volume 51:Issue 1(2020) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Long term outcome of MPI‐CDG patients on D‐mannose therapy. Issue 6 (9th August 2020) Authors: Girard, Muriel; Douillard, Claire; Debray, Dominique; Lacaille, Florence; Schiff, Manuel; Vuillaumier‐Barrot, Sandrine; Dupré, Thierry; Fabre, Monique; Damaj, Lena; Kuster, Alice; Torre, Stéphanie; Mention, Karine; McLin, Valérie; Dobbelaere, Dries; Borgel, Delphine; Bauchard, Eric; Seta, Nathali... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 6(2020) Page Start: 1360 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings. (September 2018) Authors: Gitiaux, Cyril; Kaminska, Anna; Boddaert, Nathalie; Barcia, Giulia; Guéden, Sophie; The Tich, Sylvie Nguyen; De Lonlay, Pascale; Quijano-Roy, Susana; Hully, Marie; Péréon, Yann; Desguerre, Isabelle Journal: European journal of paediatric neurology Issue: Volume 22:Number 5(2018:Sep.) Page Start: 854 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗