White vitreous opacities in five patients with Gaucher disease type 3
Author:
Affiliation:
1. Section on Molecular Neurogenetics, Medical Genetics BranchNational Human Genome Research Institute, National Institutes of Health Bethesda Maryland
2. National Eye InstituteMark O. Hatfield Clinical Research Center, NIH, DHHS Bethesda Maryland
Funder
National Eye Institute
National Human Genome Research Institute
Doris Duke Charitable Foundation
National Institutes of Health
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61479
Reference19 articles.
1. Ocular Implications of Gaucher Disease
2. The Saccadic and Neurological Deficits in Type 3 Gaucher Disease
3. Progression of retinal changes in Gaucher disease: a case report
4. The blood-ocular barriers
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1. A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment;Acta Neurologica Belgica;2024-02-28
2. Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes;Molecular Genetics and Metabolism;2021-02
3. Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment;Diagnostics;2020-01-26
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