Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

Intraocular lesions have been infrequently reported in patients with Gaucher disease type 3 (GD3). We previously reported siblings with GD3 who responded well to the combination of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Here we report progressive bilateral vitreous a...

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Bibliographic Details
Main Authors: Aizeddin Mhanni, Michel Boutin, Frank Stockl, Janine Johnston, Jeff Barnes, Donald Duerksen, Leanne Zimmer, Christiane Auray-Blais, Cheryl Rockman-Greenberg
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:Diagnostics
Subjects:
gaucher
lsd
glucosylceramide
uplc-ms/ms
vitreous
Online Access:https://www.mdpi.com/2075-4418/10/2/69

Internet

https://www.mdpi.com/2075-4418/10/2/69

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