Publications

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Displaying 1 through 4 of 4 publications.

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.

Tennis P, Chan KA, Curkendall SN, Li DK, Mines D, Peterson C, Andrews EB, Calingaert B, Chen HY, Deshpande G, Everage N, Holick CN, Meyer NM, Nkhoma ET, Quinn S, Rothman KJ, Esposito DB. Topiramate use during pregnancy and major congenital malformations in multiple populations. Birth Defects Res Part A Clin Mol Teratol. 2015 Apr;103(4):269-75. doi: 10.1002/bdra.23357.