Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counselling-Reference-Cited by-同舟云学术

Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counselling

Published:2024-04-08 Issue:3 Volume:31 Page:168-178
ISSN:1350-6129
Container-title:Amyloid
language:en
Short-container-title:Amyloid

Author:

Pedroto Maria¹²³^ORCID,Coelho Teresa⁴,Fernandes Joana⁴,Oliveira Alexandra⁵⁶,Jorge Alípio¹³^ORCID,Mendes-Moreira João¹²^ORCID

Affiliation:

1. Laboratory of Artificial Intelligence and Decision Support (LIAAD, INESCTEC), Porto, Portugal

2. Department of Informatics Engineering, Faculty of Engineering, University of Porto, Porto, Portugal

3. Department of Computer Sciences, Faculty of Sciences, University of Porto, Porto, Portugal

4. Unidade Corino de Andrade, Centro Hospitalar Universitário de Santo António, Porto, Portugal

5. ESS – Polytechnic of Porto (ESS-P.PORTO), Porto, Portugal

6. Artificial Intelligence and Computer Science Laboratory (LIACC), Porto, Portugal

Funder

National Funds through the Portuguese funding agency, FCT – Fundação para a Ciência e a Tecnologia

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13506129.2024.2332679

Reference21 articles.

1. A PECULIAR FORM OF PERIPHERAL NEUROPATHY

2. Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee

3. Coelho MTPM. Disease modifying therapies for ATTR amyloidosis: Clinical development of new drugs and impact on the natural history of the disease [Ph.D. thesis]. School of Medicine and Biomedical Sciences - University of Porto Porto; 2019.

4. Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update

5. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy