Source:http://linkedlifedata.com/resource/pubmed/id/15995833
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2005-7-4
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| pubmed:abstractText |
Arg47 is a rare transthyretin-related (TTR) amyloidosis variant that is characterised by polyneuropathy and autonomic failure. We describe an Italian family with this mutation whose members (two women and their father) showed a rapid progression of the peripheral nervous system involvement and died within 5 years of clinical onset. Patients with Arg47 or other aggressive TTR amyloidoses should be considered high priority patients for orthotopic liver transplantation.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
1590-1874
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
26
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
140-2
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| pubmed:meshHeading |
pubmed-meshheading:15995833-Adolescent,
pubmed-meshheading:15995833-Adult,
pubmed-meshheading:15995833-Age of Onset,
pubmed-meshheading:15995833-Amyloidosis, Familial,
pubmed-meshheading:15995833-Arginine,
pubmed-meshheading:15995833-DNA Mutational Analysis,
pubmed-meshheading:15995833-Family Health,
pubmed-meshheading:15995833-Female,
pubmed-meshheading:15995833-Humans,
pubmed-meshheading:15995833-Italy,
pubmed-meshheading:15995833-Male,
pubmed-meshheading:15995833-Mutation,
pubmed-meshheading:15995833-Prealbumin
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| pubmed:year |
2005
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| pubmed:articleTitle |
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation.
|
| pubmed:affiliation |
Department of Neurological Sciences, University of Bologna at Bellaria Hospital, Bologna, Italy. fabrizio.salvi@ausl.bo.it
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| pubmed:publicationType |
Journal Article
|