The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy

BACKGROUND: Gaucher disease (GD) is an autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. The presence of central nervous system disease is a hallmark of the neuronopathic forms of GD (types 2 and 3). Intraocular lesions (e.g. corn...

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Bibliographic Details
Published in:Ups J Med Sci
Main Authors: Sawicka-Gutaj, Nadia, Machaczka, Maciej, Kulińska-Niedziela, Izabela, Bernardczyk-Meller, Jadwiga, Gutaj, Paweł, Sowiński, Jerzy, Ruchała, Marek
Format: Artigo
Language:Inglês
Published: Taylor & Francis 2016
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4967266/
https://ncbi.nlm.nih.gov/pubmed/27064303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/03009734.2016.1158756
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