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

Epstein MM, Divine G, Chao CR, Wells KE, Feigelson HS, Scholes D, Roblin D, Yood MU, Engel LS, Taylor A, Fortuny J, Habel LA, Johnson CC. Statin use and risk of multiple myeloma: an analysis from the Cancer Research Network. Int J Cancer. 2017 Aug 1;141(3):480-7. doi: 10.1002/ijc.30745

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.

Hoyo C, Schildkraut JM, Murphy SK, Chow WH, Vaughan TL, Risch H, Marks JR, Jirtle RL, Calingaert B, Mayne S, Fraumeni, Jr. J, Gammon MD. IGF2R polymorphisms and risk of esophageal and gastric adenocarcinomas. Int J Cancer. 2009 Dec 1;125(11):2673-8.

Maurel J, Nadal C, Garcia-Albeniz X, Gallego R, Carcereny E, Almendro V, Marmol M, Gallardo E, Maria Auge J, Longaron R, Martinez-Fernandez A, Molina R, Castells A, Gascon P. Serum matrix metalloproteinase 7 levels identifies poor prognosis advanced colorectal cancer patients. Int J Cancer. 2007 Sep 1;121(5):1066-71.

Fortuny J, Kogevinas M, Chang-Claude J, Gonzalez CA, Hours M, Jockel KH, Bolm-Audorff U, Lynge E, 't Mannetje A, Porru S, Ranft U, Serra C, Tzonou A, Wahrendorf J, Boffetta P. Tobacco, occupation and non-transitional-cell carcinoma of the bladder: an international case-control study. Int J Cancer. 1999 Jan 5;80(1):44-6. doi: 3.0.co;2-8">10.1002/(sici)1097-0215(19990105)80:1<44::aid-ijc9>3.0.co;2-8