Publications

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Displaying 1 through 16 of 16 publications.

Mansfield C, Boeri M, Coulter J, Baranowski E, Sparks S, An Haack K, Hamed A. The value of knowing: preferences for genetic testing to diagnose rare muscle diseases. Orphanet J Rare Dis. 2024 Apr 22;19(1):173. doi: 10.1186/s13023-024-03160-7

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

Switchenko JM, Roy SL, Munoz F, Lopez G, Rivera JG, Cuellar VM, Juliao P, Lopez B, Thornton A, Patel JC, Alvarez M, Reyes L, Derado G, Arvelo W, Lindblade KA. Evaluation of residential structures not covered by aerial photographs used to generate a sampling frame – Nueva Santa Rosa, Guatemala. J Glob Health. 2021 Jul 6;5:e2021056. doi: 10.29392/001c.24585

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

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

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

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

Davis KL, Meyers J, Zhao Z, McCollam PL, Murakami M. High-risk atherosclerotic cardiovascular disease in a real-world employed Japanese population: prevalence, cardiovascular event rates, and costs. J Atheroscler Thromb. 2015 Dec 1;22(12):1287-304. doi: 10.5551/jat.28852

Rasmussen K, Belisario JM, Wark PA, Molina JA, Loong SL, Cotic Z, Papachristou N, Riboli-Sasco E, Tudor Car L, Musulanov EM, Kunz H, Zhang Y, George PP, Heng BH, Wheeler EL, Al Shorbaji N, Svab I, Atun R, Majeed A, Car J. Offline eLearning for undergraduates in health professions: a systematic review of the impact on knowledge, skills, attitudes and satisfaction. J Glob Health. 2014 Jun;4(1):010405. doi: 10.7189/jogh.04.010405

George PP, Papachristou N, Marcano Belisario J, Wang W, Wark PA, Cotic Z, Rasmussen K, Sluiter R, Riboli-Sasco E, Tudor Car L, Musulanov EM, Molina JA, Heng BH, Zhang Y, Wheeler EL, Shorbaji NA, Majeed A, Car J. Online eLearning for undergraduates in health professions: a systematic review of the impact on knowledge, skills, attitudes and satisfaction. J Glob Health. 2014 Jun;4(1):010406. doi: 10.7189/jogh.04.010406

Anthony MS. Phytoestrogens for postsmenopausal women's health. Ginecologia. 2002;27:35.