{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T14:50:42Z","timestamp":1774536642930,"version":"3.50.1"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2016,5,26]],"date-time":"2016-05-26T00:00:00Z","timestamp":1464220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2016,5,26]],"date-time":"2016-05-26T00:00:00Z","timestamp":1464220800000},"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":["J Hum Genet"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1038\/jhg.2016.52","type":"journal-article","created":{"date-parts":[[2016,5,26]],"date-time":"2016-05-26T06:21:30Z","timestamp":1464243690000},"page":"775-780","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis"],"prefix":"10.1038","volume":"61","author":[{"given":"Jiwon","family":"Seo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minji","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geu-Ru","family":"Hong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dae-Seong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jang-Won","family":"Son","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In Jeong","family":"Cho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chi Young","family":"Shim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyuk-Jae","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong-Won","family":"Ha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Namsik","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,5,26]]},"reference":[{"key":"BFjhg201652_CR1","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","volume":"372","author":"YA Zarate","year":"2008","unstructured":"Zarate, Y. A. & Hopkin, R. J. Fabry's disease. Lancet 372, 1427\u20131435 (2008).","journal-title":"Lancet"},{"key":"BFjhg201652_CR2","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1056\/NEJM199508033330504","volume":"333","author":"S Nakao","year":"1995","unstructured":"Nakao, S., Takenaka, T., Maeda, M., Kodama, C., Tanaka, A., Tahara, M. et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N. Engl. J. Med. 333, 288\u2013293 (1995).","journal-title":"N. Engl. J. Med."},{"key":"BFjhg201652_CR3","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1161\/01.CIR.0000139847.74101.03","volume":"110","author":"C Chimenti","year":"2004","unstructured":"Chimenti, C., Pieroni, M., Morgante, E., Antuzzi, D., Russo, A., Russo, M. A. et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 110, 1047\u20131053 (2004).","journal-title":"Circulation"},{"key":"BFjhg201652_CR4","doi-asserted-by":"publisher","first-page":"1059","DOI":"10.1016\/j.ijcard.2012.10.076","volume":"167","author":"K Mawatari","year":"2013","unstructured":"Mawatari, K., Yasukawa, H., Oba, T., Nagata, T., Togawa, T., Tsukimura, T. et al. Screening for Fabry disease in patients with left ventricular hypertrophy. Int. J. Cardiol. 167, 1059\u20131061 (2013).","journal-title":"Int. J. Cardiol."},{"key":"BFjhg201652_CR5","doi-asserted-by":"publisher","first-page":"2399","DOI":"10.1016\/j.jacc.2007.06.062","volume":"50","author":"L Monserrat","year":"2007","unstructured":"Monserrat, L., Gimeno-Blanes, J. R., Marin, F., Hermida-Prieto, M., Garcia-Honrubia, A., Perez, I. et al. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 50, 2399\u20132403 (2007).","journal-title":"J. Am. Coll. Cardiol."},{"key":"BFjhg201652_CR6","doi-asserted-by":"publisher","first-page":"1957","DOI":"10.1136\/heartjnl-2011-300364","volume":"97","author":"P Elliott","year":"2011","unstructured":"Elliott, P., Baker, R., Pasquale, F., Quarta, G., Ebrahim, H., Mehta, A. B. et al. Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey. Heart 97, 1957\u20131960 (2011).","journal-title":"Heart"},{"key":"BFjhg201652_CR7","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1093\/eurheartj\/ehm153","volume":"28","author":"A Linhart","year":"2007","unstructured":"Linhart, A., Kampmann, C., Zamorano, J. L., Sunder-Plassmann, G., Beck, M., Mehta, A. et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur. Heart J. 28, 1228\u20131235 (2007).","journal-title":"Eur. Heart J."},{"key":"BFjhg201652_CR8","doi-asserted-by":"publisher","first-page":"1986","DOI":"10.1016\/S0140-6736(09)61493-8","volume":"374","author":"A Mehta","year":"2009","unstructured":"Mehta, A., Beck, M., Elliott, P., Giugliani, R., Linhart, A., Sunder-Plassmann, G. et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 374, 1986\u20131996 (2009).","journal-title":"Lancet"},{"key":"BFjhg201652_CR9","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1161\/CIRCULATIONAHA.108.794529","volume":"119","author":"F Weidemann","year":"2009","unstructured":"Weidemann, F., Niemann, M., Breunig, F., Herrmann, S., Beer, M., Stork, S. et al. Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 119, 524\u2013529 (2009).","journal-title":"Circulation"},{"key":"BFjhg201652_CR10","doi-asserted-by":"publisher","first-page":"2561","DOI":"10.1161\/CIRCULATIONAHA.108.841494","volume":"119","author":"BL Thurberg","year":"2009","unstructured":"Thurberg, B. L., Fallon, J. T., Mitchell, R., Aretz, T., Gordon, R. E. & O'Callaghan, M. W. Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy. Circulation 119, 2561\u20132567 (2009).","journal-title":"Circulation"},{"key":"BFjhg201652_CR11","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1136\/hrt.2008.162800","volume":"95","author":"M Imbriaco","year":"2009","unstructured":"Imbriaco, M., Pisani, A., Spinelli, L., Cuocolo, A., Messalli, G., Capuano, E. et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart 95, 1103\u20131107 (2009).","journal-title":"Heart"},{"key":"BFjhg201652_CR12","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.ijcard.2008.03.007","volume":"130","author":"C Kampmann","year":"2008","unstructured":"Kampmann, C., Linhart, A., Baehner, F., Palecek, T., Wiethoff, C. M., Miebach, E. et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int. J. Cardiol. 130, 367\u2013373 (2008).","journal-title":"Int. J. Cardiol."},{"key":"BFjhg201652_CR13","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1136\/hrt.2005.063818","volume":"93","author":"A Linhart","year":"2007","unstructured":"Linhart, A. & Elliott, P. M. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93, 528\u2013535 (2007).","journal-title":"Heart"},{"key":"BFjhg201652_CR14","doi-asserted-by":"publisher","first-page":"1492","DOI":"10.1016\/j.amjcard.2010.07.016","volume":"106","author":"FI Gambarin","year":"2010","unstructured":"Gambarin, F. I., Disabella, E., Narula, J., Diegoli, M., Grasso, M., Serio, A. et al. When should cardiologists suspect Anderson-Fabry disease? Am. J. Cardiol. 106, 1492\u20131499 (2010).","journal-title":"Am. J. Cardiol."},{"key":"BFjhg201652_CR15","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1136\/jmg.38.11.750","volume":"38","author":"KD MacDermot","year":"2001","unstructured":"MacDermot, K. D., Holmes, A. & Miners, A. H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J. Med. Genet. 38, 750\u2013760 (2001).","journal-title":"J. Med. Genet."},{"key":"BFjhg201652_CR16","doi-asserted-by":"publisher","first-page":"1440","DOI":"10.1016\/j.echo.2005.10.005","volume":"18","author":"RM Lang","year":"2005","unstructured":"Lang, R. M., Bierig, M., Devereux, R. B., Flachskampf, F. A., Foster, E., Pellikka, P. A. et al. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J. Am. Soc. Echocardiogr. 18, 1440\u20131463 (2005).","journal-title":"J. Am. Soc. Echocardiogr."},{"key":"BFjhg201652_CR17","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.euje.2005.12.014","volume":"7","author":"RM Lang","year":"2006","unstructured":"Lang, R. M., Bierig, M., Devereux, R. B., Flachskampf, F. A., Foster, E., Pellikka, P. A. et al. Recommendations for chamber quantification. Eur. J. Echocardiogr. 7, 79\u2013108 (2006).","journal-title":"Eur. J. Echocardiogr."},{"key":"BFjhg201652_CR18","doi-asserted-by":"publisher","first-page":"2917","DOI":"10.1093\/eurheartj\/ehs221","volume":"33","author":"M Guazzi","year":"2012","unstructured":"Guazzi, M., Adams, V., Conraads, V., Halle, M., Mezzani, A., Vanhees, L. et al. EACPR\/AHA Joint Scientific Statement. Clinical recommendations for cardiopulmonary exercise testing data assessment in specific patient populations. Eur. Heart J. 33, 2917\u20132927 (2012).","journal-title":"Eur. Heart J."},{"key":"BFjhg201652_CR19","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.ijcard.2011.09.076","volume":"166","author":"J Moon","year":"2013","unstructured":"Moon, J., Shim, J., Park, J. H., Hwang, H. J., Joung, B., Ha, J. W. et al. Small left atrial volume is an independent predictor for fainting during head-up tilt test: the impact of intracardiac volume reserve in vasovagal syncope. Int. J. Cardiol. 166, 44\u201349 (2013).","journal-title":"Int. J. Cardiol."},{"key":"BFjhg201652_CR20","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1001\/jama.281.6.524","volume":"281","author":"MS Lauer","year":"1999","unstructured":"Lauer, M. S., Francis, G. S., Okin, P. M., Pashkow, F. J., Snader, C. E. & Marwick, T. H. Impaired chronotropic response to exercise stress testing as a predictor of mortality. JAMA 281, 524\u2013529 (1999).","journal-title":"JAMA"},{"key":"BFjhg201652_CR21","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1093\/europace\/eup433","volume":"12","author":"T Kawasaki","year":"2010","unstructured":"Kawasaki, T., Kaimoto, S., Sakatani, T., Miki, S., Kamitani, T., Kuribayashi, T. et al. Chronotropic incompetence and autonomic dysfunction in patients without structural heart disease. Europace 12, 561\u2013566 (2010).","journal-title":"Europace"},{"key":"BFjhg201652_CR22","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1161\/CIRCULATIONAHA.110.940577","volume":"123","author":"PH Brubaker","year":"2011","unstructured":"Brubaker, P. H. & Kitzman, D. W. Chronotropic incompetence: causes, consequences, and management. Circulation 123, 1010\u20131020 (2011).","journal-title":"Circulation"},{"key":"BFjhg201652_CR23","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1093\/hmg\/3.4.667","volume":"3","author":"J Davies","year":"1994","unstructured":"Davies, J., Christomanou, H., Winchester, B. & Malcolm, S. Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. Hum. Mol. Genet. 3, 667\u2013669 (1994).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201652_CR24","first-page":"227","volume":"48","author":"P Ashton-Prolla","year":"2000","unstructured":"Ashton-Prolla, P., Tong, B., Shabbeer, J., Astrin, K. H., Eng, C. M. & Desnick, R. J. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype\/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J. Investig. Med. 48, 227\u2013235 (2000).","journal-title":"J. Investig. Med."},{"key":"BFjhg201652_CR25","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz, J. M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575\u2013576 (2010).","journal-title":"Nat. Methods"},{"key":"BFjhg201652_CR26","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1067\/mhj.2000.105105","volume":"139","author":"A Linhart","year":"2000","unstructured":"Linhart, A., Palecek, T., Bultas, J., Ferguson, J. J., Hrudova, J., Karetova, D. et al. New insights in cardiac structural changes in patients with Fabry's disease. Am. Heart J. 139, 1101\u20131108 (2000).","journal-title":"Am. Heart J."},{"key":"BFjhg201652_CR27","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1093\/eurheartj\/ehp387","volume":"31","author":"N Brakch","year":"2010","unstructured":"Brakch, N., Dormond, O., Bekri, S., Golshayan, D., Correvon, M., Mazzolai, L. et al. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. Eur. Heart J. 31, 67\u201376 (2010).","journal-title":"Eur. Heart J."},{"key":"BFjhg201652_CR28","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1093\/eurheartj\/ehp426","volume":"31","author":"F Barbey","year":"2010","unstructured":"Barbey, F., Qanadli, S. D., Juli, C., Brakch, N., Palacek, T., Rizzo, E. et al. Aortic remodelling in Fabry disease. Eur. Heart J. 31, 347\u2013353 (2010).","journal-title":"Eur. Heart J."},{"key":"BFjhg201652_CR29","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1136\/hrt.2010.211789","volume":"97","author":"M Namdar","year":"2011","unstructured":"Namdar, M., Steffel, J., Vidovic, M., Brunckhorst, C. B., Holzmeister, J., Luscher, T. F. et al. Electrocardiographic changes in early recognition of Fabry disease. Heart 97, 485\u2013490 (2011).","journal-title":"Heart"},{"key":"BFjhg201652_CR30","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1016\/j.amjcard.2005.05.033","volume":"96","author":"JS Shah","year":"2005","unstructured":"Shah, J. S., Hughes, D. A., Sachdev, B., Tome, M., Ward, D., Lee, P. et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am. J. Cardiol. 96, 842\u2013846 (2005).","journal-title":"Am. J. Cardiol."},{"key":"BFjhg201652_CR31","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/0002-9149(94)90106-6","volume":"74","author":"WT Pochis","year":"1994","unstructured":"Pochis, W. T., Litzow, J. T., King, B. G. & Kenny, D. Electrophysiologic findings in Fabry's disease with a short PR interval. Am. J. Cardiol. 74, 203\u2013204 (1994).","journal-title":"Am. J. Cardiol."},{"key":"BFjhg201652_CR32","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/S0002-8703(77)80064-1","volume":"93","author":"J Mehta","year":"1977","unstructured":"Mehta, J., Tuna, N., Moller, J. H. & Desnick, R. J. Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease. Am. Heart J. 93, 699\u2013705 (1977).","journal-title":"Am. Heart J."},{"key":"BFjhg201652_CR33","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1016\/j.amjcard.2009.10.056","volume":"105","author":"M Namdar","year":"2010","unstructured":"Namdar, M., Kampmann, C., Steffel, J., Walder, D., Holzmeister, J., Luscher, T. F. et al. PQ interval in patients with Fabry disease. Am. J. Cardiol. 105, 753\u2013756 (2010).","journal-title":"Am. J. Cardiol."},{"key":"BFjhg201652_CR34","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1111\/j.1651-2227.2002.tb03108.x","volume":"91","author":"MJ Hilz","year":"2002","unstructured":"Hilz, M. J. Evaluation of peripheral and autonomic nerve function in Fabry disease. Acta Paediatr. Suppl. 91, 38\u201342 (2002).","journal-title":"Acta Paediatr. Suppl."},{"issue":"Suppl. 2","key":"BFjhg201652_CR35","doi-asserted-by":"publisher","first-page":"S150","DOI":"10.1097\/01.ASN.0000015239.57436.18","volume":"13","author":"EH Kolodny","year":"2002","unstructured":"Kolodny, E. H. & Pastores, G. M. Anderson-Fabry disease: extrarenal, neurologic manifestations. J. Am. Soc. Nephrol. 13 (Suppl. 2), S150\u2013S153 (2002).","journal-title":"J. Am. Soc. Nephrol."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg201652.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201652","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201652.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:35:47Z","timestamp":1684431347000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201652"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,26]]},"references-count":35,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["BFjhg201652"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2016.52","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,26]]},"assertion":[{"value":"9 January 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 April 2016","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 April 2016","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 May 2016","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}