标题
Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease
作者
关键词
-
出版物
Scientific Reports
Volume 9, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-06-28
DOI
10.1038/s41598-019-45837-1
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- α-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease
- (2018) James J. Miller et al. FASEB JOURNAL
- Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease
- (2018) Gulfidan Bitirgen et al. Scientific Reports
- Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study
- (2017) Maarten Arends et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
- (2017) Barbara K. Burton et al. JOURNAL OF PEDIATRICS
- Emptying the stores: lysosomal diseases and therapeutic strategies
- (2017) Frances M. Platt NATURE REVIEWS DRUG DISCOVERY
- Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
- (2016) Derralynn A Hughes et al. JOURNAL OF MEDICAL GENETICS
- Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
- (2016) Dominique P. Germain et al. NEW ENGLAND JOURNAL OF MEDICINE
- Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri
- (2015) Patrick V. Hopkins et al. JOURNAL OF PEDIATRICS
- Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease
- (2015) Susanne Pitz et al. PLoS One
- Ophthalmic experience over 10 years in an observational nationwide Danish cohort of Fabry patients with access to enzyme replacement
- (2014) Hans C. Fledelius et al. ACTA OPHTHALMOLOGICA
- A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis
- (2013) Atsumi Taguchi et al. BIOCHEMICAL JOURNAL
- Lipids and the ocular lens
- (2010) Douglas Borchman et al. JOURNAL OF LIPID RESEARCH
- Fabry disease
- (2010) Dominique P Germain Orphanet Journal of Rare Diseases
- Ocular Features of Fabry Disease: Diagnosis of a Treatable Life-threatening Disorder
- (2008) Nasi Samiy SURVEY OF OPHTHALMOLOGY
- Subfoveal choroidal neovascularization in a patient with Fabry’s disease
- (2008) Andrea Sodi et al. INTERNATIONAL OPHTHALMOLOGY
- The lens epithelium: Focus on the expression and function of the α-crystallin chaperones
- (2007) Usha P. Andley INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started