A validated disease severity scoring system for adults with type 1 Gaucher disease
نویسندگان
چکیده
منابع مشابه
Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)
BACKGROUND GD1-DS3 is an integrated assessment of type 1 Gaucher disease (GD1) burden based on bone, hematologic and visceral domains. We investigated this disease severity scoring system (DS3) methodology for initial assessment, long-term follow-up and evaluation of treatment responses. METHODS We enrolled 133 treated adult GD1 patients. Baseline DS3 scores were calculated near the initial t...
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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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[This corrects the article on p. 4639 in vol. 9.].
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The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease type 1 (GD1). GD is an rare inborn error of metabolism caused by accumulation of lipid substrates such as glucosylceramide within the monocyte-macrophage system that affects the body by causing enlargement of the spleen and liver, destruction of bone, and abnormaliti...
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Introduction A Disease Severity Scoring System (DS3) measures disease burden in patients. It consists of critical health domains, each described by relevant clinical assessment(s) quantified via reliable, valid and feasible methods. DS3s are particularly useful in rare, heterogeneous diseases in which evaluating severity and prognosis is difficult. Properly configured, a DS3 provides interand i...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2009
ISSN: 1098-3600,1530-0366
DOI: 10.1097/gim.0b013e3181c39194