Monogenic Disorder: Fabry Disease
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-56210-0_7
Reference62 articles.
1. MIM Number 301500 - Fabry Disease. Johns Hopkins University. http://www.omim.org/entry/301500 . Accessed 6 Feb 2017
2. EC 3.2.1.22. International Union of Biochemistry and Molecular Biology. http://www.chem.qmul.ac.uk/iubmb/enzyme/EC3/2/1/22.html . Accessed 6 Feb 2017
3. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008;105:2812–7.
4. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79:31–40.
5. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest. 2004;34:236–42.
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