Publications

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Displaying 1 through 13 of 13 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

Yee KS, Lewis S, Evans E, Romano (DeMuro) C, Alexanderian D. Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II. Orphanet J Rare Dis. 2024 Mar 10;19(1):100. doi: 10.1186/s13023-024-03034-y

Yee KS, Chirila C, Davenport E, Mladsi D, Barnett C, Kronenberger WG. A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. Orphanet J Rare Dis. 2023 Nov 2;18(1):343. doi: 10.1186/s13023-023-02957-2

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

Chamandi C, Barbanti M, Munoz-Garcia A, Latib A, Nombela-Franco L, Gutierrez-Ibanez E, Veiga-Fernandez G, Cheema AN, Cruz-Gonzalez I, Serra V, Tamburino C, Mangieri A, Colombo A, Jimenez-Quevedo P, Elizaga J, Laughlin G, Lee DH, Garcia Del Blanco B, Rodriguez-Gabella T, Marsal JR, Cote M, Philippon F, Rodes-Cabau J. Long-term outcomes in patients with new permanent pacemaker implantation following transcatheter aortic valve replacement. JACC Cardiovasc Interv. 2018 Feb 12;11(3):301-10. doi: 10.1016/j.jcin.2017.10.032

Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet J Rare Dis. 2017 Oct 16;12(1):164. doi: 10.1186/s13023-017-0716-z

Abdul-Jawad Altisent O, Durand E, Munoz-Garcia AJ, Nombela-Franco L, Cheema A, Kefer J, Gutierrez E, Benitez LM, Amat-Santos IJ, Serra V, Eltchaninoff H, Alnasser SM, Elizaga J, Dager A, Garcia Del Blanco B, Ortas-Nadal MDR, Marsal JR, Campelo-Parada F, Regueiro A, Del Trigo M, Dumont E, Puri R, Rodes-Cabau J. Reply: antithrombotic regimen in post-TAVR atrial fibrillation: not an easy decision. JACC Cardiovasc Interv. 2016 Nov 28;9(22):2366-8. doi: 10.1016/j.jcin.2016.09.038

Abdul-Jawad Altisent O, Durand E, Munoz-Garcia AJ, Nombela-Franco L, Cheema A, Kefer J, Gutierrez E, Benitez LM, Amat-Santos IJ, Serra V, Eltchaninoff H, Alnasser SM, Elizaga J, Dager A, Garcia Del Blanco B, Ortas-Nadal Mdel R, Marsal JR, Campelo-Parada F, Regueiro A, Del Trigo M, Dumont E, Puri R, Rodes-Cabau J. Warfarin and antiplatelet therapy versus Warfarin alone for treating patients with atrial fibrillation undergoing transcatheter aortic valve replacement. JACC Cardiovasc Interv. 2016 Aug 22;9(16):1706-17. doi: 10.1016/j.jcin.2016.06.025

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.