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FAP is an autosomal dominant inherited disease, characterized by systemic deposition of amyloid fibrils in various tissues. The purpose of this study is to describe the gross and microscopic findings of the explanted livers for FAP.10 patients were transplanted for FAP at our institution. Diagnosis was supported by positive familiar history, clinical data(More)
OBJECTIVE To evaluate the oxidative state in patients with familial amyloidotic polyneuropathy type 1 (FAP1). DESIGN From 3 unrelated families, patients with FAP1 carrying a transthyretin Met-30 mutation were studied. The diagnosis was confirmed by genetic analysis. Eleven of 21 patients carried the mutation; all were symptomatic and were clinically(More)
Familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disease, characterized by systemic deposition of amyloid fibrils in various tissues, especially in peripheral nerves, being a variant of transthyretin (TTR) the principal component of amyloid fibrils. TTR is a normal plasma protein (previously called prealbumin) that functions as a(More)
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