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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

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Clinical Picture and Outcome of Transthyretin-Related Familial Amyloid Polyneuropathy (FAP) in Japanese Patients

Shu-ichi Ikeda

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 40, Issue 12, Pages 1257–1261, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2002.217, June 2005

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Familial amyloid polyneuropathy (FAP) was once considered to be a disease peculiar to endemic areas, but it is now recognized that FAP kindreds exist in worldwide places. The amyloid precursor of FAP is a variant form of transthyretin (TTR) with one amino acid substitution, which is ascribed to a mutation of TTR gene. Corresponding to the variety of the clinical phenotypes of FAP, more than 80 mutations have been identified as causative gene abnormality in this disease. Since the vast majority of TTR in serum is produced in the liver, liver transplantation has become widely accepted as a valuable treatment for FAP.

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