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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2010-6-7
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pubmed:abstractText |
We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours would benefit from treatment considering her father's severe course of disease. The relevant literature on this problem is reviewed.
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pubmed:grant |
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041083-18,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041083-19,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041123-09,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041123-10,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041138-06,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041139-05,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041139-06,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041153-04,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041170-01,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041176-01,
http://linkedlifedata.com/resource/pubmed/grant/Z01 AR041180-01,
http://linkedlifedata.com/resource/pubmed/grant/ZIA AR041083-20,
http://linkedlifedata.com/resource/pubmed/grant/ZIA AR041123-11,
http://linkedlifedata.com/resource/pubmed/grant/ZIA AR041138-07,
http://linkedlifedata.com/resource/pubmed/grant/ZIA AR041139-07,
http://linkedlifedata.com/resource/pubmed/grant/ZIA AR041153-05,
http://linkedlifedata.com/resource/pubmed/grant/ZIA AR041162-02,
http://linkedlifedata.com/resource/pubmed/grant/ZIA AR041170-02,
http://linkedlifedata.com/resource/pubmed/grant/ZIA AR041185-01,
http://linkedlifedata.com/resource/pubmed/grant/ZID AR041180-02,
http://linkedlifedata.com/resource/pubmed/grant/ZIE AR041176-02
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-10199409,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-11023397,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-11986423,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-12209524,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-12352631,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-12595616,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-12905494,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-15316120,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-15361406,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-15479908,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-15549379,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-15630744,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-16093838,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-16287931,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-16308343,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-16371805,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-16801330,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-16865571,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-16935919,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-17048217,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-17967816,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-18056150,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-18408954,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-18438813,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20169391-18690165
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1439-7609
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
311-5
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pubmed:dateRevised |
2011-7-28
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pubmed:meshHeading |
pubmed-meshheading:20169391-Adult,
pubmed-meshheading:20169391-Amyloidosis,
pubmed-meshheading:20169391-Female,
pubmed-meshheading:20169391-Hereditary Autoinflammatory Diseases,
pubmed-meshheading:20169391-Humans,
pubmed-meshheading:20169391-Kidney Failure, Chronic,
pubmed-meshheading:20169391-Mutation,
pubmed-meshheading:20169391-Receptors, Tumor Necrosis Factor, Type I
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pubmed:year |
2010
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pubmed:articleTitle |
Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site.
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pubmed:affiliation |
University Clinic of Regensburg, Regensburg, Germany. petra.lehmann@klinik.uni-regensburg.de
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pubmed:publicationType |
Journal Article,
Case Reports
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