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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
Wesselink AK, Hatch EE, Mikkelsen EM, Trolle E, Willis SK, McCann SE, Valsta L, Lundqvist A, Tucker KL, Rothman KJ, Wise LA. Dietary phytoestrogen intakes of adult women are not strongly related to fecundability in 2 preconception cohort studies. J Nutr. 2020 May 1;150(5):1240-51. doi: 10.1093/jn/nxz335
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
Saande CJ, Pritchard SK, Worrall DM, Snavely SE, Nass CA, Neuman JC, Luchtel RA, Dobiszewski S, Miller JW, Vailati-Riboni M, Loor JJ, Schalinske KL. Dietary egg protein prevents hyperhomocysteinemia via upregulation of hepatic betaine-homocysteine S-methyltransferase activity in folate-restricted rats. J Nutr. 2019 Aug 1;149(8):1369-76. doi: 10.1093/jn/nxz069
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