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 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):550–555.

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):112–128.


Smid BE, et al. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet. 2015 Apr;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):2220–2228.

Schiffmann R, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul;24(7):2102–2111.


Patel MR, et al. Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry. J Am Coll Cardiol. 2011 Mar;57(9):1093–1099.


Zar-Kessler C, et al. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis. Therap Adv Gastroenterol. 2016 Jul;9(4):626–634.

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