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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 / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

12 Issues per year


IMPACT FACTOR 2016: 3.432

CiteScore 2016: 2.21

SCImago Journal Rank (SJR) 2016: 1.000
Source Normalized Impact per Paper (SNIP) 2016: 1.112

Online
ISSN
1437-4331
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Volume 40, Issue 12 (Dec 2002)

Issues

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

Shu-ichi Ikeda
Published Online: 2005-06-01 | DOI: https://doi.org/10.1515/CCLM.2002.217

Abstract

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.

About the article

Published Online: 2005-06-01

Published in Print: 2002-12-10


Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2002.217.

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