منابع مشابه
Type 3 Gaucher disease, diagnostic in adulthood
El-Beshlawy reported in the issue of the Journal the largest experience to date of patients with type 3 Gaucher disease (GD3) treated by imiglucerase and enrolled in an International Registry [1]. They confirmed both a very early clinical presentation (median age at diagnosis: 1.7 year) and a good prognosis (probability of surviving for at least 5 years after starting imiglucerase of 92%). Howe...
متن کاملThe Saccadic and Neurological Deficits in Type 3 Gaucher Disease
UNLABELLED Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We...
متن کاملPreviously unrecognized behavioral phenotype in Gaucher disease type 3
OBJECTIVE To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics. METHODS Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in the study. They were selected based on parent report and/or physician observation of one or mor...
متن کاملtype 2 gaucher disease (acute infantile gaucher disease or neuropathic type)
how to cite this article: taghdiri mm. type 2 gaucher disease (acute infantile gaucher disease or neuropathic type). iran j child neurol autumn 2012; 6:4 (suppl. 1):12. pls see pdf.
متن کاملclinical manifestations of type 1 gaucher disease
how to cite this article: salehpour sh. clinical manifestations of type 1 gaucher disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):13-14. pls see pdf. refe r ences 1. beutler e, grabowski ga. gaucher disease. in: metabolic and molecular bases of inherited disease, scriver cr, beaudet al, sly ws, valle d (eds), mcgraw-hill, new york 2001: 3635. 2. cox tm, schofield jp. gaucher’s diseas...
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ژورنال
عنوان ژورنال: Ophthalmology
سال: 2020
ISSN: 0161-6420
DOI: 10.1016/j.ophtha.2020.02.019