Publications

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Displaying 1 through 16 of 16 publications.

Yee KS, Alexanderian D, Martin S, Olayinka-Amao B, Whiteman DAH. Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment. Orphanet J Rare Dis. 2024 Apr 12;19(1):148. doi: 10.1186/s13023-024-03147-4

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

Foreman PK, Margulis AV, Alexander K, Shediac R, Calingaert B, Harding A, Pladevall-Vila M, Landis S. Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis. Orphanet J Rare Dis. 2021 Jun 3;16(1):253. doi: 10.1186/s13023-021-01874-6

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

Harrington M, Whalley D, Twiss J, Rushton R, Martin S, Huynh L, Yang H. Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers. Orphanet J Rare Dis. 2019 Apr 29;14(1):89. doi: 10.1186/s13023-019-1060-2

Baneras J, Ferreira-Gonzalez I, Marsal JR, Barrabes JA, Ribera A, Lidon RA, Domingo E, Marti G, Garcia-Dorado D, CODI IAM Registry investigators. Short-term exposure to air pollutants increases the risk of ST elevation myocardial infarction and of infarct-related ventricular arrhythmias and mortality. Int J Cardiol. 2018 Jan 1;250:35-42. doi: 10.1016/j.ijcard.2017.10.004

Pijuan-Domenech A, Galian L, Goya M, Casellas M, Merced C, Ferreira-Gonzalez I, Marsal-Mora JR, Dos-Subira L, Subirana-Domenech MT, Pedrosa V, Baro-Marine F, Manrique S, Casaldaliga-Ferrer J, Tornos P, Cabero L, Garcia-Dorado D. Cardiac complications during pregnancy are better predicted with the modified WHO risk score. Int J Cardiol. 2015 Sep 15;195:149-54. doi: 10.1016/j.ijcard.2015.05.076

Schmidt M, Rothman KJ. Mistaken inference caused by reliance on and misinterpretation of a significance test. Int J Cardiol. 2014 Oct 7;177(3):1089-90.

Dos L, Pujadas S, Estruch M, Mas A, Ferreira-Gonzalez I, Pijuan A, Serra R, Ordonez-Llanos J, Subirana M, Pons-Llado G, Marsal JR, Garcia-Dorado D, Casaldaliga J. Eplerenone in systemic right ventricle: double blind randomized clinical trial. The evedes study. Int J Cardiol. 2013 Oct 15;168(6):5167-73. doi: 10.1016/j.ijcard.2013.07.163

Ribera A, Ferriera-Gonzalez I, Del Blanco BG, Marsal JR, Cascant P, Marti G, Cequier AR, Gomez-Hospital JA, Fernandez-Nofrerias E, Carrillo X, Lopez-Perez MC, Navarro J, Raso R, Garcia-Dorado D, Permanyer-Miralda G, ACDC study investigators. Drug-eluting stents for off-label indications in real clinical world: evidence based or 'intuition' based clinical practice? Int J Cardiol. 2013 Mar 20;164(1):116-22. doi: 10.1016/j.ijcard.2011.06.096

Herring WL, Herrmann JW. The single-day surgery scheduling problem: sequential decision-making and threshold-based heuristics. OR spectrum: quantitative approaches in management. 2012 Apr 1;34(2):429-59.

Garcia-Alvarez A, Sitges M, Garcia-Albeniz X, Sionis A, Loma-Osorio P, Bosch X. Atypical cardiac manifestation of hypereosinophilic syndrome and reversible cardiotoxicity to imatinib. Int J Cardiol. 2010 Mar 4;139(2):e29-31. doi: 10.1016/j.ijcard.2008.11.018