Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series
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چکیده
منابع مشابه
Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characterist...
متن کاملType 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 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...
متن کاملType 1 and type 3 Gaucher disease in two siblings in a family: 2 unusual case reports.
Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. We are reporting two interesting cases of type 1 non-neuropathic and type 3 juvenile s...
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...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2019
ISSN: 2045-2322
DOI: 10.1038/s41598-019-51976-2