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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Detalles Bibliográficos
Autores principales: Mhanni, Aizeddin, Boutin, Michel, Stockl, Frank, Johnston, Janine, Barnes, Jeff, Duerksen, Donald, Zimmer, Leanne, Auray-Blais, Christiane, Rockman-Greenberg, Cheryl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168891/
https://www.ncbi.nlm.nih.gov/pubmed/31991859
http://dx.doi.org/10.3390/diagnostics10020069

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