Articles with "familial transthyretin" as a keyword



Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation).

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Published in 2018 at "American journal of ophthalmology"

DOI: 10.1016/j.ajo.2018.05.023

Abstract: PURPOSE To describe abnormalities in choroidal and retinal vasculature associated with Val30Met familial transthyretin amyloidosis (V30M-FTA) using fluorescein and indocyanine green (ICG) angiography. DESIGN Prospective, cross-sectional study. METHODS This study was conducted at the French… read more here.

Keywords: familial transthyretin; v30m fta; transthyretin amyloidosis;
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Progressive Multiple Mononeuropathy in a Patient With Familial Transthyretin Amyloidosis After Liver Transplantation.

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Published in 2022 at "Journal of clinical neuromuscular disease"

DOI: 10.1097/cnd.0000000000000368

Abstract: ABSTRACT Valine 122 isoleucine (V122I) is the most common mutation associated with familial transthyretin-related amyloidosis (fATTR) in the metropolitan United States. V122I-related fATTR usually presents with cardiomyopathy. When polyneuropathy is encountered, it is usually mild,… read more here.

Keywords: familial transthyretin; transplantation; amyloidosis; liver transplantation ... See more keywords