1. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. Issue 2 (7th December 2015) Authors: Staufner, Christian; Lindner, Martin; Dionisi‐Vici, Carlo; Freisinger, Peter; Dobbelaere, Dries; Douillard, Claire; Makhseed, Nawal; Straub, Beate K.; Kahrizi, Kimia; Ballhausen, Diana; la Marca, Giancarlo; Kölker, Stefan; Haas, Dorothea; Hoffmann, Georg F.; Grünert, Sarah C.; Blom, Henk J. Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 2(2016) Page Start: 273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients. Issue 5 (7th June 2021) Authors: Toquet, Ségolène; Spodenkiewicz, Marta; Douillard, Claire; Maillot, François; Arnoux, Jean‐Baptiste; Damaj, Lena; Odent, Sylvie; Moreau, Caroline; Redonnet‐Vernhet, Isabelle; Mesli, Samir; Servais, Aude; Noel, Esther; Charriere, Sybill; Rigalleau, Vincent; Lavigne, Christian; Kaphan, Elsa; Rouber... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 5(2021) Page Start: 1199 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Foetal exposure to mitotane/Op'DDD: Post‐natal study of four children. (16th October 2018) Authors: Magkou, Dimitra; Do Cao, Christine; Bouvattier, Claire; Douillard, Claire; de Marcellus, Capucine; Cazabat, Laure; Gérard, Maxime; Raffin‐Sanson, Marie‐Laure; Young, Jacques Journal: Clinical endocrinology Issue: Volume 89:Number 6(2018) Page Start: 805 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. Issue 5 (30th November 2012) Authors: Debs, Rabab; Froissart, Roseline; Aubourg, Patrick; Papeix, Caroline; Douillard, Claire; Degos, Bertrand; Fontaine, Bertrand; Audoin, Bertrand; Lacour, Arnaud; Said, Gérard; Vanier, Marie T.; Sedel, Frédéric Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 5(2013) Page Start: 859 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells. Issue 1 (January 2021) Authors: Sollier, Camille; Capel, Emilie; Aguilhon, Caroline; Smirnov, Vasily; Auclair, Martine; Douillard, Claire; Ladsous, Miriam; Defoort-Dhellemmes, Sabine; Gorwood, Jennifer; Braud, Laura; Motterlini, Roberto; Vatier, Camille; Lascols, Olivier; Renard, Eric; Vigouroux, Corinne; Jéru, Isabelle Journal: European journal of endocrinology Issue: Volume 184:Issue 1(2021) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells. Issue 1 (January 2021) Authors: Sollier, Camille; Capel, Emilie; Aguilhon, Caroline; Smirnov, Vasily; Auclair, Martine; Douillard, Claire; Ladsous, Miriam; Defoort-Dhellemmes, Sabine; Gorwood, Jennifer; Braud, Laura; Motterlini, Roberto; Vatier, Camille; Lascols, Olivier; Renard, Eric; Vigouroux, Corinne; Jéru, Isabelle Journal: European journal of endocrinology Issue: Volume 184:Issue 1(2021) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Mediation of Interleukin‐23 and Tumor Necrosis Factor–Driven Reactive Arthritis by Chlamydia‐Infected Macrophages in SKG Mice. Issue 7 (28th May 2021) Authors: Romand, Xavier; Liu, Xiao; Rahman, M. Arifur; Bhuyan, Zaied Ahmed; Douillard, Claire; Kedia, Reena Arora; Stone, Nathan; Roest, Dominique; Chew, Zi Huai; Cameron, Amy J.; Rehaume, Linda M.; Bozon, Aurélie; Habib, Mohammed; Armitage, Charles W.; Nguyen, Minh Vu Chuong; Favier, Bertrand; Beagley, K... Journal: Arthritis & rheumatology Issue: Volume 73:Issue 7(2021) Page Start: 1200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Nitrous oxide abuse in the emergency practice, and Review of toxicity mechanisms and potential markers. (April 2022) Authors: Joncquel Chevalier-Curt, Marie; Grzych, Guillaume; Tard, Céline; Lannoy, Julien; Deheul, Sylvie; Hanafi, Riyad; Douillard, Claire; Vamecq, Joseph Journal: Food and chemical toxicology Issue: Volume 162(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia. Issue 1 (29th January 2020) Authors: Perry, Ariane; Douillard, Claire; Jonca, Frederic; Glowacki, Francois; Leroy, Xavier; Caveriviere, Paul; Hubert, Aurélie; Labrune, Philippe Journal: JIMD reports Issue: Volume 52:Issue 1(2020) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗