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Article
RNA interference in late-stage hereditary transthyretin amyloidosis: a clinicopathological study
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Article
Localized intestinal AL amyloidosis detected as bright green using autofluorescence endoscopy
Amyloidosis is classifiable as systemic, with amyloid deposition in organs throughout the body, or localized, involving only one organ. Amyloidosis localized in the intestinal tract is rare. This report descri...
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Article
An autopsy case of amyloid tubulopathy exhibiting characteristic spheroid-type deposition
An 84-year-old woman with a history of haemodialysis for renal failure from approximately 1 year before death. Autopsy revealed numerous spheroid-type amyloid deposits in the kidney that were observed mainly i...
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Article
Macrophage activation syndrome in adult dermatomyositis: a case-based review
Macrophage activation syndrome (MAS) is a severe and life-threatening syndrome associated with autoimmune diseases, characterized by fever, hepatosplenomegaly, and pancytopenia. Dermatomyositis (DM) is one of ...
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Article
Visualization of multiple organ amyloid involvement in systemic amyloidosis using 11C-PiB PET imaging
To investigate the utility of Pittsburgh compound B (PiB) positron emission tomography (PET) imaging for evaluating whole-body amyloid involvement in patients with systemic amyloidosis.
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Article
Open AccessA novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical...
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Article
Primary AL amyloidosis presenting with systemic lymphadenopathy with calcification