Publications

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Displaying 1 through 8 of 8 publications.

O'Neill C, Mansfield C, Drake E, Coulter J, Peay HL. Parent prioritization of meaningful treatment targets for Sanfilippo syndrome. Poster presented at the 2020 World Symposium; February 2020. Orlando, FL. [abstract] Mol Genet Metab. 2020 Feb; 129(2):S121. doi: 10.1016/j.ymgme.2019.11.315

Gupta A, El-Rami H, Barham R, Fleming A, van Hemert J, Sun JK, Silva PS, Aiello LP. Effect of phase-plate adjustment on retinal image sharpness and visible retinal area on ultrawide field imaging. Eye (Lond). 2019 Apr 1;33(4):587-91. doi: 10.1038/s41433-018-0270-5

Noel E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagege A, Dupuis-Simeon F, Derrien V, Germain DP, Lidove O. Fabry patients' needs and expectations regarding their treatment in France: development of a Patients' Need Questionnaire (PNQ Fabry). Poster presented at the 2019 WORLDSymposium; February 2019. Orlando, FL. [abstract] Mol Genet Metab. 2019 Feb; 126(2):S110. doi: 10.1016/j.ymgme.2018.12.278

Kreher N, Phillips D, Fehnel S, Brown M. Evaluating the content validity of the Diary of Irritable Bowel Syndrome Symptoms – Mixed (DIBSS-M) to assess gastrointestinal symptoms associated with Fabry disease. Poster presented at the 16th Annual WORLDSymposium; February 11, 2019. Orlando, FL. [abstract] Mol Genet Metab. 2019 Feb; 126(2):S87. doi: 10.1016/j.ymgme.2018.12.215

Slota C, Quintana M, Shrader J, Joe G, McKew J, Fitzgerald M, Gahl WA, Berry S, Carrillo N. GNE myopathy: disease progression determined by longitudinal natural history data and mathematical modeling. Poster presented at the Society for Inherited Metabolic Disorders Conference; April 2016. Ponte Vedra Beach, FL. [abstract] Mol Genet Metab. 2016 Apr; 117(2016):221-98.

Oldenburg CE, Keenan JD, Cevallos V, Chan MF, Acharya NR, Gaynor BD, McLeod SD, Esterberg EJ, Porco TC, Lietman TM. Microbiological cure times in acanthamoeba keratitis. Eye (Lond). 2011 Sep;25(9):1155-60. doi: 10.1038/eye.2011.126

Becker N, Fortuny J, Alvaro T, Nieters A, Maynadie M, Foretova L, Staines A, Brennan P, Boffetta P, Cocco PL, de Sanjose S. Medical history and risk of lymphoma: results of a European case-control study (EPILYMPH). J Cancer Res Clin Oncol. 2009 Aug;135(8):1099-107. doi: 10.1007/s00432-009-0551

Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, Hawe E, Iversen A, Wray R, Crook MA, Wierzbicki AS. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med (Berl). 2006;84(3):203-14.