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Publications
Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GA, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clement K, Haqq AM. Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. Orphanet J Rare Dis. 2023 Jan 16;18(1):12. doi: 10.1186/s13023-022-02602-4
Kuhnen P, Wabitsch M, von Schnurbein J, Chirila C, Mallya UG, Callahan P, Gnanasakthy A, Poitou C, Krabusch PM, Stewart M, Clement K. Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency. Orphanet J Rare Dis. 2022 Feb 5;17(1):38. doi: 10.1186/s13023-022-02186-z
Noel E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagege A, Dupuis-Simeon F, Derrien Ansquer V, Germain DP, Lidove O. Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. Orphanet J Rare Dis. 2019 Dec 4;14(1):284. doi: 10.1186/s13023-019-1254-7
Paquin RS, Fischer R, Mansfield C, Mange B, Beaverson K, Ganot A, Martin AS, Morris C, Rensch C, Ricotti V, Russo LJ, Sadosky A, Smith EC, Peay H. Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients. Orphanet J Rare Dis. 2019 May 9;14(1):102. doi: 10.1186/s13023-019-1069-6
Maurer M, Houghton K, Costa C, Dabove F, Ensina LF, Gimenez-Arnau A, Guillet G, Konstantinou GN, Labrador-Horrillo M, Lapeere H, Meshkova R, Pastorello E, Velasquez-Lopera M, Tamayo Quijano LM, Vestergaard C, Chapman-Rothe N. Differences in chronic spontaneous urticaria between Europe and Central/South America: results of the multi-center real world AWARE study. World Allergy Organ J. 2018 Nov 16;11(32). doi: 10.1186/s40413-018-0216-1
Price KJ, Knowles JA, Fox M, Wales JK, Heller S, Eiser C, Freeman JV, Brennan A, Basarir H, Stevens K, McPherson A. Effectiveness of the Kids in Control of Food (KICk–OFF) structured education course for 11–16 year olds with type 1 diabetes. Diabet Med. 2016 Feb;33(2):192-203. doi: 10.1111/dme.12881
Goatman KA, Philip S, Fleming AD, Harvey RD, Swa KK, Styles C, Black M, Sell G, Lee N, Sharp PF, Olson JA. External quality assurance for image grading in the Scottish diabetic retinopathy screening programme. Diabet Med. 2012 Jun 1;29(6):776-83. doi: 10.1111/j.1464-5491.2011.03504.x