Scientific Articles
Jun 05, 2019
For the first time, we report of a Swedish family of five individuals with a TTR Glu54Leu (p. Glu74Leu) mutation in the transthyretin gene. This mutation has been…
May 20, 2019
Systemic amyloidosis can be hereditary or acquired with autosomal dominant mutations in the transthyretin gene (TTR) being the most common cause of hereditary…
Apr 16, 2019
Background:
Hereditary transthyretin amyloidosis (hATTR) is associated with significant morbidity and mortality. Early diagnosis and treatment are essential to…
Apr 09, 2019
Background:
Scattered extracellular deposits of amyloid within the brain parenchyma can be found in a heterogeneous group of diseases. Its condensed accumulation in…
Mar 14, 2019
Background:
Transthyretin (TTR) amyloidosis is an underdiagnosed disease caused by destabilization of TTR due to pathogenic mutations or aging. Both pathogenic and…
Jan 17, 2019
Hereditary transthyretin-mediated amyloidosis is caused by a mutation in transthyretin (TTR) gene resulting in misfolded TTR protein accumulating as amyloid fibrils…
Jan 17, 2019
Rational:
Clinical and radiologic manifestations of pleural amyloidosis are non-specific. And it can easily be missed or misdiagnosed. Meanwhile, few studies…
Dec 13, 2018
Rationale:
Immunoglobulin light chain amyloidosis (AL amyloidosis) is characterized by the deposition of abnormal amyloid protein produced by a pathological plasma…
Dec 03, 2018
Background:
Cardiac Amyloidosis (CA) pertains to the cardiac involvement of a group of diseases, in which misfolded proteins deposit in tissues and cause…
Nov 26, 2018
Primary systemic amyloidosis is characterized by the deposition of insoluble monoclonal immunoglobulin light chains in various tissues and is usually associated…