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This bibliography contains links to literature and PubMed abstracts on topics related to Fabry Disease, including diagnosis, comorbidities, and disease registry analyses.

These publications were chosen by Sanofi Genzyme Medical Affairs personnel. Additional resources on these topics are available and should be investigated.

Review/Natural History

Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30.

Sims K et al. History data from the Fabry Registry. Stroke. 2009 Mar;40(3):788-94.

Hopkin RJ et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008 Nov;64(5):550-5.

Wilcox WR et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28.


Smid, BE et al. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet. 2015;52:4 262-268.


Wanner C et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010 Dec;5(12):2220-8.

Tøndel C et al. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis. 2008 May;51(5):767-76.


Patel MR et al. Cardiovascular events in patients with fabry disease natural history data from the fabry registry. J Am Coll Cardiol. 2011 Mar 1;57(9):1093-9.


Zar-Kessler C et al. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis. Therap Adv Gastroenterol. 2016 Jul;9(4):626-34.




Last Updated: Feb 5, 2021
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