Articles with "ser77tyr transthyretin" as a keyword



Photo by house_42 from unsplash

Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features

Sign Up to like & get
recommendations!
Published in 2023 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51741

Abstract: Amyloidosis due to the transthyretin Ser77Tyr mutation (ATTRS77Y) is a rare autosomal‐dominant disorder, characterized by carpal‐tunnel syndrome, poly‐ and autonomic‐neuropathy, and cardiomyopathy. However, related symptoms and signs are often nonspecific and confirmatory tests are required.… read more here.

Keywords: diagnostic features; israel initial; ser77tyr transthyretin; amyloidosis israel ... See more keywords