Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease
Author:
Funder
U.S. Department of Health & Human Services | National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-45837-1.pdf
Reference31 articles.
1. Hopkins, P. V. et al. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. Journal of Pediatrics 166, 172–177 (2015).
2. Burton, B. K. et al. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. J Pediatr 190, 130–135, https://doi.org/10.1016/j.jpeds.2017.06.048 (2017).
3. Germain, D. P. Fabry disease. Orphanet J Rare Dis 5, 30, https://doi.org/10.1186/1750-1172-5-30 (2010).
4. Pitz, S. et al. Ocular signs correlate well with disease severity and genotype in Fabry disease. PLoS One 10, e0120814, https://doi.org/10.1371/journal.pone.0120814 (2015).
5. Sodi, A. et al. Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey. Br J Ophthalmol 91, 210–214, https://doi.org/10.1136/bjo.2006.100602 (2007).
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3. Frequency Doubling Technology Visual Field Loss in Fabry Subjects Related to Retinal Ganglion Cell Function as Explored by ERG and OSOME;Clinical Ophthalmology;2022-06
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