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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
Polo R, Garcia-Albeniz X, Teran C, Morales M, Rial-Crestelo D, Garcinuno MA, Garcia del Toro M, Hita C, Gomez-Sirvent JL, Buzon L, Diaz de Santiago A, Perez Arellano JL, Sanz J, Bachiller P, Martinez Alfaro E, Diaz-Brito V, Masia M, Hernandez-Torres A, Guerra J, Santos J, Arazo P, Munoz L, Arribas JR, Martinez de Salazar P, Moreno S, Hernan MA, Del Amo J. Daily tenofovir disoproxil fumarate/emtricitabine and hydroxychloroquine for pre-exposure prophylaxis of COVID-19: a double-blind placebo controlled randomized trial in healthcare workers. Clin Microbiol Infect. 2022 Aug 5;1198-743X(22):00370-6. doi: 10.1016/j.cmi.2022.07.006.
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
Fernandez-Hidalgo N, Ferreria-Gonzalez I, Marsal JR, Ribera A, Aznar ML, de Alarcon A, Garcia-Cabrera E, Galvez-Acebal J, Sanchez-Espin G, Reguera-Iglesias JM, De La Torre-Lima J, Lomas JM, Hidalgo-Tenorio C, Vallejo N, Miranda B, Santos-Ortega A, Castro MA, Tornos P, Garcia-Dorado D, Almirante B. A pragmatic approach for mortality prediction after surgery in infective endocarditis: optimizing and refining EuroSCORE. Clin Microbiol Infect. 2018 Oct;24(10):1102. doi: 10.1016/j.cmi.2018.01.019