Publications

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Displaying 1 through 7 of 7 publications.

Gracia Baena JM, Calaf Vall I, Zielonka M, Marsal Mora JR, Godoy P, Worner Diz F. Risk factors and comorbidities associated with severe aortic stenosis: a case-control study. Rev Clin Esp. 2021 May 23;221(5):249-57. doi: 10.1016/j.rce.2020.01.010.

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

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.

Horndler C, Gallego R, Garcia-Albeniz X, Alonso-Espinaco V, Alonso V, Escudero P, Jimeno M, Ortego J, Codony-Servat J, Fernandez-Martos C, Calatrava A, Marín-Aguilera M, Munoz J, Castellví-Bel S, Castells A, Rubini M, Gascon P, Maurel J. Co-expression of matrix metalloproteinase-7 (MMP-7) and phosphorylated insulin growth factor receptor I (pIGF-1R) correlates with poor prognosis in patients with wild-type KRAS treated with cetuximab or panitumumab: a GEMCAD study. Cancer Biol Ther. 2011 Jan 15;11(2):177-83.

Williams RE, Kalilani L, DiBenedetti DB, Zhou X, Granger AL, Fehnel SE, Levine KB, Jordan J, Clark RV. Frequency and severity of vasomotor symptoms among peri- and postmenopausal women in the United States. Climacteric. 2008 Jan 1;11(1):32-43.