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A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carrier...

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carrier...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7af854a35a024965ae84da2f60cdfa1e

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study

About this item

Full title

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.323-10, Article 323

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Variant transthyretin amyloidosis (ATTRv) is a rare multisystemic disorder caused by mutations in the transthyretin (TTR) gene. The aim of the present work was to describe the clinical profile of asymptomatic carriers (AC) and Coutinho stage 1 ATTRv patients in Spain.
National, multicentre, cross-sectional study that included 86 AC and 19 patien...

Alternative Titles

Full title

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_7af854a35a024965ae84da2f60cdfa1e

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7af854a35a024965ae84da2f60cdfa1e

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-024-03304-9

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