Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
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چکیده
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Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
BACKGROUND Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL) synthesis and cholesterol esters trafficking. CASE REPORT A 58 year-old female, presenting with complex clinical signs (splenomegaly, dysarthria, dysphagia, ataxia, tongue e...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2014
ISSN: 1750-1172
DOI: 10.1186/s13023-014-0143-3