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Amyloidosis, Hereditary

Known as: Amyloidoses, Hereditary, Amyloidosis - hereditaries, Amyloidosis - hereditary 
Diseases in which there is an inherited mutation leading to AMYLOIDOSIS.
National Institutes of Health

Related topics

Related topics

2 relations

Narrower (1)

Amyloid Neuropathies, Familial

Broader (1)

Amyloidosis, Familial

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations
Hereditary systemic amyloidosis comprises a group of rare monogenic diseases inherited in an autosomal dominant fashion. It is… 
Highly Cited
2014
Highly Cited
2014
Clinical diagnosis and typing of systemic amyloidosis in subcutaneous fat aspirates by mass spectrometry-based proteomics
Examination of abdominal subcutaneous fat aspirates is a practical, sensitive and specific method for the diagnosis of systemic… 
Review
2010
Review
2010
Genetics of restrictive cardiomyopathy.
Highly Cited
2009
Highly Cited
2009
Hereditary amyloidosis with polyneuropathy.
. An account, mainly clinical, is given of 18 cases of hereditary amyloidosis with polyneuropathy. Common to all cases were… 
Highly Cited
2009
Highly Cited
2009
Binding of epigallocatechin‐3‐gallate to transthyretin modulates its amyloidogenicity
Highly Cited
2001
Highly Cited
2001
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene.
Hereditary systemic amyloidosis may be caused by mutations in a number of plasma proteins including transthyretin, apolipoprotein… 
Review
2000
Review
2000
Liver transplantation for hereditary transthyretin amyloidosis
Transthyretin (TTR) amyloidosis is the most common form of hereditary amyloidosis. It is a systemic amyloidosis caused by an… 
Review
1995
Review
1995
A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis.
A man with hereditary non-neuropathic systemic amyloidosis had amyloid fibril protein subunits consisting of N-terminal fragments… 
Highly Cited
1993
Highly Cited
1993
Hereditary renal amyloidosis associated with a mutant fibrinogen α–chain
Three members of a family who died with renal amyloidosis were found to share a single nucleotide substitution in the fibrinogen… 
Highly Cited
1990
Highly Cited
1990
Mutation in gelsolin gene in Finnish hereditary amyloidosis
Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy. The novel amyloid… 
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