Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation | Zendy

Marta Lipowska | Zendy; H Drac | Zendy; Dorota Rowczenio | Zendy; Janet A. Gilbertson | Zendy; Philip N. Hawkins | Zendy; Anetta LasekBal | Zendy; Janusz Szewczuk | Zendy; Jacek Grzybowski | Zendy; Monika Gawor | Zendy; Małgorzata StępieńWojno | Zendy; Maria Franaszczyk | Zendy; Joanna Brydak-Godowska | Zendy; Renata Śmierciak | Zendy; Agnieszka Ptasińska-Perkowska | Zendy; Ján Chandoga | Zendy; Róbert Petrovič | Zendy; Anna KosteraPruszczyk | Zendy

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Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation

Author(s) -

Marta Lipowska,

H Drac,

Dorota Rowczenio,

Janet A. Gilbertson,

Philip N. Hawkins,

Anetta LasekBal,

Janusz Szewczuk,

Jacek Grzybowski,

Monika Gawor,

Małgorzata StępieńWojno,

Maria Franaszczyk,

Joanna Brydak-Godowska,

Renata Śmierciak,

Agnieszka Ptasińska-Perkowska,

Ján Chandoga,

Róbert Petrovič,

Anna KosteraPruszczyk

Publication year - 2020

Publication title -

neurologia i neurochirurgia polska

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.484

H-Index - 26

eISSN - 1897-4260

pISSN - 0028-3843

DOI - 10.5603/pjnns.a2020.0100

Subject(s) - transthyretin , medicine , polyneuropathy , mutation , genetic heterogeneity , phenotype , amyloidosis , neurology , presentation (obstetrics) , pediatrics , genetics , surgery , gene , psychiatry , biology

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive, hereditary, highly disabling multisystem disorder. ATTR-FAP phenotypes differ according to the type of TTR mutation, geographic region and other as yet unidentified factors. The aim of this study was to establish the clinical and genetic characteristics of Polish patients.

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