Cargando…

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...

Descripción completa

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:
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