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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.


Review/Natural History

Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30.
https://www.ncbi.nlm.nih.gov/pubmed/21092187

Sims K et al. History data from the Fabry Registry. Stroke. 2009 Mar;40(3):788-94.
https://www.ncbi.nlm.nih.gov/pubmed/19150871

Hopkin RJ et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008 Nov;64(5):550-5.
https://www.ncbi.nlm.nih.gov/pubmed/18596579

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.
https://www.ncbi.nlm.nih.gov/pubmed/18037317


Lyso-Gb3

Smid, BE et al. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet. 2015;52:4 262-268.
https://www.ncbi.nlm.nih.gov/pubmed/25596309


Renal

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.
https://www.ncbi.nlm.nih.gov/pubmed/20813854

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.
https://www.ncbi.nlm.nih.gov/pubmed/18436087


Cardiac

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.
https://www.ncbi.nlm.nih.gov/pubmed/21349401


Gastrointestinal

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4913334/


 

 

 

Last Updated: Jan 24, 2020
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