| pubmed-article:14578606 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:14578606 | lifeskim:mentions | umls-concept:C0018787 | lld:lifeskim |
| pubmed-article:14578606 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:14578606 | lifeskim:mentions | umls-concept:C0002726 | lld:lifeskim |
| pubmed-article:14578606 | lifeskim:mentions | umls-concept:C0061472 | lld:lifeskim |
| pubmed-article:14578606 | lifeskim:mentions | umls-concept:C0032923 | lld:lifeskim |
| pubmed-article:14578606 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:14578606 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:14578606 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:14578606 | lifeskim:mentions | umls-concept:C1515568 | lld:lifeskim |
| pubmed-article:14578606 | pubmed:issue | 11 | lld:pubmed |
| pubmed-article:14578606 | pubmed:dateCreated | 2003-10-27 | lld:pubmed |
| pubmed-article:14578606 | pubmed:abstractText | A 40-year-old man presented with initial symptoms of syncope caused by restrictive cardiomyopathy and autonomic nervous system impairment, but it was confirmed that he had a novel transthyretin (TTR) variant, aspartic acid-18 glutamic acid (Glu), and a de novo gene mutation. A polymerase chain reaction-induced mutation restriction analysis with a mismatched sense primer demonstrated that he was heterozygous for TTR Glu 18. Liver transplantation was not performed because of profound weakness and severe postural hypotension. Right-sided heart failure predominated in association with low output syndrome and a gradual decrease in total QRS voltage on electrocardiogram over 5 years of follow-up. Autonomic neuropathy developed and he eventually died of both-sided heart failure at the age of 45 years. Immunohistochemical and DNA studies are important to diagnose and treat TTR-related cardiac amyloidosis. | lld:pubmed |
| pubmed-article:14578606 | pubmed:language | eng | lld:pubmed |
| pubmed-article:14578606 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14578606 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:14578606 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14578606 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:14578606 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:14578606 | pubmed:issn | 1346-9843 | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:DateYukariY | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:NakazatoMasam... | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:TsurudaToshih... | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:EtoTanenaoT | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:ImamuraTakuro... | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:MatsuoTakeshi... | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:IshikawaTetsu... | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:KomatsuHiroyu... | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:AshizukaShiny... | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:AoyamaFumiyoF | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:SumiMotokoM | lld:pubmed |
| pubmed-article:14578606 | pubmed:author | pubmed-author:HirayamaNaote... | lld:pubmed |
| pubmed-article:14578606 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:14578606 | pubmed:volume | 67 | lld:pubmed |
| pubmed-article:14578606 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:14578606 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:14578606 | pubmed:pagination | 965-8 | lld:pubmed |
| pubmed-article:14578606 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:meshHeading | pubmed-meshheading:14578606... | lld:pubmed |
| pubmed-article:14578606 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:14578606 | pubmed:articleTitle | Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation. | lld:pubmed |
| pubmed-article:14578606 | pubmed:affiliation | First Department of Internal Medicine, Miyazaki Medical College, Kiyotake, Japan. imatak@post.miyazaki-med.ac.jp | lld:pubmed |
| pubmed-article:14578606 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:14578606 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:7276 | entrezgene:pubmed | pubmed-article:14578606 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:14578606 | lld:entrezgene |
| lhgdn:association:38367 | lhgdn:found_in | pubmed-article:14578606 | lld:lhgdn |
