{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T03:52:05Z","timestamp":1648785125550},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T00:00:00Z","timestamp":1561334400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T00:00:00Z","timestamp":1561334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Herz"],"published-print":{"date-parts":[[2019,8]]},"DOI":"10.1007\/s00059-019-4824-5","type":"journal-article","created":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T09:13:31Z","timestamp":1561367611000},"page":"461-474","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Kardiale Speichererkrankungen"],"prefix":"10.1007","volume":"44","author":[{"given":"T.","family":"Trenkwalder","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Schunkert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Reinhard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,6,24]]},"reference":[{"issue":"11","key":"4824_CR1","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1093\/eurheartj\/ehs166","volume":"34","author":"Z Yousef","year":"2013","unstructured":"Yousef Z, Elliott PM, Cecchi F et\u00a0al (2013) Left ventricular hypertrophy in Fabry disease: a\u00a0practical approach to diagnosis. Eur Heart\u00a0J 34(11):802\u2013808","journal-title":"Eur Heart J"},{"issue":"3","key":"4824_CR2","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1007\/s12181-014-0636-2","volume":"9","author":"E Schulze-Bahr","year":"2015","unstructured":"Schulze-Bahr E, Klaassen S, Abdul-Khaliq H et al (2015) Gendiagnostik bei kardiovaskul\u00e4ren Erkrankungen. Kardiologe 9(3):213\u2013243","journal-title":"Kardiologe"},{"issue":"1","key":"4824_CR3","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1086\/504601","volume":"79","author":"M Spada","year":"2006","unstructured":"Spada M, Pagliardini S, Yasuda M et al (2006) High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79(1):31\u201340","journal-title":"Am J Hum Genet"},{"issue":"4","key":"4824_CR4","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","volume":"123","author":"A Ortiz","year":"2018","unstructured":"Ortiz A, Germain DP, Desnick RJ et\u00a0al (2018) Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab 123(4):416\u2013427","journal-title":"Mol Genet Metab"},{"issue":"3","key":"4824_CR5","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1111\/j.1365-2362.2004.01309.x","volume":"34","author":"A Mehta","year":"2004","unstructured":"Mehta A, Ricci R, Widmer U et\u00a0al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34(3):236\u2013242","journal-title":"Eur J Clin Invest"},{"issue":"1","key":"4824_CR6","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1111\/cge.12613","volume":"89","author":"L Echevarria","year":"2016","unstructured":"Echevarria L, Benistan K, Toussaint A et al (2016) X\u2011chromosome inactivation in female patients with Fabry disease. Clin Genet 89(1):44\u201354","journal-title":"Clin Genet"},{"issue":"6","key":"4824_CR7","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1016\/j.amjcard.2014.06.019","volume":"114","author":"J Kramer","year":"2014","unstructured":"Kramer J, Niemann M, Stork S et\u00a0al (2014) Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease. Am J Cardiol 114(6):895\u2013900","journal-title":"Am J Cardiol"},{"issue":"12","key":"4824_CR8","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1016\/j.jacc.2016.06.053","volume":"68","author":"RH Falk","year":"2016","unstructured":"Falk RH, Alexander KM, Liao R et al (2016) AL (light-chain) cardiac amyloidosis: a review of diagnosis and therapy. J\u00a0Am Coll Cardiol 68(12):1323\u20131341","journal-title":"J Am Coll Cardiol"},{"issue":"2","key":"4824_CR9","doi-asserted-by":"publisher","first-page":"e000098","DOI":"10.1161\/JAHA.113.000098","volume":"2","author":"JH Pinney","year":"2013","unstructured":"Pinney JH, Whelan CJ, Petrie A et\u00a0al (2013) Senile systemic amyloidosis: clinical features at presentation and outcome. J\u00a0Am Heart Assoc 2(2):e98","journal-title":"J Am Heart Assoc"},{"issue":"24","key":"4824_CR10","doi-asserted-by":"publisher","first-page":"2404","DOI":"10.1161\/CIRCULATIONAHA.116.021612","volume":"133","author":"JD Gillmore","year":"2016","unstructured":"Gillmore JD, Maurer MS, Falk RH et\u00a0al (2016) Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 133(24):2404\u20132412","journal-title":"Circulation"},{"issue":"11","key":"4824_CR11","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1056\/NEJMoa1805689","volume":"379","author":"MS Maurer","year":"2018","unstructured":"Maurer MS, Schwartz JH, Gundapaneni B et\u00a0al (2018) Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N\u00a0Engl J Med 379(11):1007\u20131016","journal-title":"N Engl J Med"},{"issue":"1","key":"4824_CR12","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1056\/NEJMoa1716153","volume":"379","author":"D Adams","year":"2018","unstructured":"Adams D, Gonzalez-Duarte A, O\u2019Riordan WD et al (2018) Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N\u00a0Engl J Med 379(1):11\u201321","journal-title":"N Engl J Med"},{"issue":"1","key":"4824_CR13","doi-asserted-by":"publisher","first-page":"25","DOI":"10.2217\/nmt-2018-0037","volume":"9","author":"MD Benson","year":"2019","unstructured":"Benson MD, Dasgupta NR, Monia BP (2019) Inotersen (transthyretin-specific antisense oligonucleotide) for treatment of transthyretin amyloidosis. Neurodegener Dis Manag 9(1):25\u201330","journal-title":"Neurodegener Dis Manag"},{"key":"4824_CR14","doi-asserted-by":"publisher","DOI":"10.1001\/jamacardio.2019.0849","author":"M Minamisawa","year":"2019","unstructured":"Minamisawa M, Claggett B, Adams D et\u00a0al (2019) Association of Patisiran, an RNA interference therapeutic, with regional left ventricular myocardial strain in hereditary transthyretin amyloidosis: the APOLLO study. JAMA Cardiol. \n                    https:\/\/doi.org\/10.1001\/jamacardio.2019.0849","journal-title":"JAMA Cardiol"},{"issue":"4","key":"4824_CR15","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1161\/CIRCULATIONAHA.118.035831","volume":"139","author":"SD Solomon","year":"2019","unstructured":"Solomon SD, Adams D, Kristen A et al (2019) Effects of Patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin-mediated amyloidosis. Circulation 139(4):431\u2013443","journal-title":"Circulation"},{"issue":"1","key":"4824_CR16","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.jhep.2010.03.001","volume":"53","author":"European Association For The Study Of The Liver","year":"2010","unstructured":"European Association For The Study Of The Liver (2010) EASL clinical practice guidelines for HFE hemochromatosis. J\u00a0Hepatol 53(1):3\u201322","journal-title":"J Hepatol"},{"issue":"1","key":"4824_CR17","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1016\/j.cld.2014.09.011","volume":"19","author":"RJ Salgia","year":"2015","unstructured":"Salgia RJ, Brown K (2015) Diagnosis and management of hereditary hemochromatosis. Clin Liver Dis 19(1):187\u2013198","journal-title":"Clin Liver Dis"},{"issue":"20","key":"4824_CR18","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1056\/NEJM198511143132004","volume":"313","author":"C Niederau","year":"1985","unstructured":"Niederau C, Fischer R, Sonnenberg A et\u00a0al (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N\u00a0Engl J Med 313(20):1256\u20131262","journal-title":"N Engl J Med"},{"issue":"2","key":"4824_CR19","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1002\/hep.21260","volume":"44","author":"L Falize","year":"2006","unstructured":"Falize L, Guillygomarc\u2019h A, Perrin M et\u00a0al (2006) Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a\u00a0study of 36 cases. Hepatology 44(2):472\u2013477","journal-title":"Hepatology"},{"issue":"2","key":"4824_CR20","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1007\/s12072-018-9855-0","volume":"12","author":"P Adams","year":"2018","unstructured":"Adams P, Altes A, Brissot P et\u00a0al (2018) Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y\/C282Y) homozygous genotype. Hepatol Int 12(2):83\u201386","journal-title":"Hepatol Int"},{"issue":"3","key":"4824_CR21","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1586\/17474124.2016.1119043","volume":"10","author":"P Brissot","year":"2016","unstructured":"Brissot P (2016) Optimizing the diagnosis and the treatment of iron overload diseases. Expert Rev Gastroenterol Hepatol 10(3):359\u2013370","journal-title":"Expert Rev Gastroenterol Hepatol"},{"issue":"4","key":"4824_CR22","first-page":"1107","volume":"110","author":"C Niederau","year":"1996","unstructured":"Niederau C, Fischer R, Purschel A et al (1996) Long-term survival in patients with hereditary hemochromatosis. Baillieres Clin Gastroenterol 110(4):1107\u20131119","journal-title":"Baillieres Clin Gastroenterol"}],"container-title":["Herz"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00059-019-4824-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00059-019-4824-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00059-019-4824-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,22]],"date-time":"2020-06-22T23:49:04Z","timestamp":1592869744000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00059-019-4824-5"}},"subtitle":["Stellenwert der genetischen Diagnostik"],"short-title":[],"issued":{"date-parts":[[2019,6,24]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["4824"],"URL":"https:\/\/doi.org\/10.1007\/s00059-019-4824-5","relation":{},"ISSN":["0340-9937","1615-6692"],"issn-type":[{"value":"0340-9937","type":"print"},{"value":"1615-6692","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,24]]},"assertion":[{"value":"24 June 2019","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"T.\u00a0Trenkwalder, H.\u00a0Schunkert und W.\u00a0Reinhard geben an, dass kein Interessenkonflikt besteht.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}