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Type 1 and type 3 Gaucher disease in two siblings in a family: 2 unusual case reports.

作者信息

Modak Dolanchampa, Roy Sasmit, Nath Uttam, Guha S K

机构信息

Assistant Professor, Department of Tropical Medicine, School of Tropical Medicine , Kolkata, India .

Post Graduate Trainee, Department of Tropical Medicine, School of Tropical Medicine , Kolkata, India .

出版信息

J Clin Diagn Res. 2015 Feb;9(2):OD01-2. doi: 10.7860/JCDR/2015/8493.5507. Epub 2015 Feb 1.

DOI:10.7860/JCDR/2015/8493.5507
PMID:25859481
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4378763/
Abstract

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 subacute neuropathic variant of adult Gaucher disease in two of three siblings in a family.

摘要

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