{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,15]],"date-time":"2026-08-15T14:10:58Z","timestamp":1786803058642,"version":"build-2736575974"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T00:00:00Z","timestamp":1489017600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T00:00:00Z","timestamp":1489017600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1038\/jhg.2017.31","type":"journal-article","created":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T08:18:10Z","timestamp":1489047490000},"page":"665-670","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Prevalence of Fabry disease and GLA c.196G&gt;C variant in Japanese stroke patients"],"prefix":"10.1038","volume":"62","author":[{"given":"Kiyoshiro","family":"Nagamatsu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiki","family":"Sekijima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2342-1089","authenticated-orcid":false,"given":"Katsuya","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimitoshi","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoko","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masao","family":"Ota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusaku","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumio","family":"Endo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-ichi","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,3,9]]},"reference":[{"key":"BFjhg201731_CR1","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"RJ Desnick","year":"2001","unstructured":"Desnick, R. J., Ioannou, Y. A., Eng, C. M. in The Metabolic and Molecular Bases of Inherited Disease, 8 edn (eds Scriver C. R., Beaudet A. L., Sly W. S. & Valle D.)37\u201374 McGraw-Hill, New York, USA, 2001)."},{"key":"BFjhg201731_CR2","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","volume":"64","author":"S Nakao","year":"2003","unstructured":"Nakao, S., Kodama, C., Takenaka, T., Tanaka, A., Yasumoto, Y., Yoshida, A. et al. Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a \"renal variant\" phenotype. Kidney Int. 64, 801\u2013807 (2003).","journal-title":"Kidney Int."},{"key":"BFjhg201731_CR3","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":"BFjhg201731_CR4","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","volume":"93","author":"WR Wilcox","year":"2008","unstructured":"Wilcox, W. R., Oliveira, J. P., Hopkin, R. J., Ortiz, A., Banikazemi, M., Feldt-Rasmussen, U. et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol. Genet. Metab. 93, 112\u2013128 (2008).","journal-title":"Mol. Genet. Metab."},{"key":"BFjhg201731_CR5","doi-asserted-by":"publisher","first-page":"1407","DOI":"10.1161\/01.CIR.0000012626.81324.38","volume":"105","author":"B Sachdev","year":"2002","unstructured":"Sachdev, B., Takenaka, T., Teraguchi, H., Tei, C., Lee, P., Mckenna, W. J. et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105, 1407\u20131411 (2002).","journal-title":"Circulation"},{"key":"BFjhg201731_CR6","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":"BFjhg201731_CR7","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1093\/ndt\/gfl528","volume":"22","author":"M Merta","year":"2007","unstructured":"Merta, M., Reiterova, J., Ledvinova, J., Poupetova, H., Dobrovolny, R., Rysava, R. et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol. Dial. Transplant. 22, 179\u2013186 (2007).","journal-title":"Nephrol. Dial. Transplant."},{"key":"BFjhg201731_CR8","doi-asserted-by":"publisher","first-page":"281","DOI":"10.5414\/CNP64281","volume":"64","author":"M Tanaka","year":"2005","unstructured":"Tanaka, M., Ohashi, T., Kobayashi, M., Eto, Y., Miyamura, N., Nishida, K. et al. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin. Nephrol. 64, 281\u2013287 (2005).","journal-title":"Clin. Nephrol."},{"key":"BFjhg201731_CR9","doi-asserted-by":"publisher","first-page":"1794","DOI":"10.1016\/S0140-6736(05)67635-0","volume":"366","author":"A Rolfs","year":"2005","unstructured":"Rolfs, A., Bottcher, T., Zschiesche, M., Morris, P., Winchester, B., Bauer, P. et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366, 1794\u20131796 (2005).","journal-title":"Lancet"},{"key":"BFjhg201731_CR10","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1161\/STROKEAHA.109.558320","volume":"41","author":"MA Wozniak","year":"2010","unstructured":"Wozniak, M. A., Kittner, S. J., Tuhrim, S., Cole, J. W., Stern, B., Dobbins, M. et al. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 41, 78\u201381 (2010).","journal-title":"Stroke"},{"key":"BFjhg201731_CR11","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1161\/STROKEAHA.109.570499","volume":"41","author":"MV Baptista","year":"2010","unstructured":"Baptista, M. V., Ferreira, S., Pinho, E. M. T., Carvalho, M., Cruz, V. T., Carmona, C. et al. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study\u2014screening genetic conditions in Portuguese young stroke patients. Stroke 41, 431\u2013436 (2010).","journal-title":"Stroke"},{"key":"BFjhg201731_CR12","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1161\/STROKEAHA.110.579409","volume":"41","author":"R Brouns","year":"2010","unstructured":"Brouns, R., Thijs, V., Eyskens, F., Van Den Broeck, M., Belachew, S., Van Broeckhoven, C. et al. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 41, 863\u2013868 (2010).","journal-title":"Stroke"},{"key":"BFjhg201731_CR13","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1161\/STROKEAHA.112.663708","volume":"44","author":"A Rolfs","year":"2013","unstructured":"Rolfs, A., Fazekas, F., Grittner, U., Dichgans, M., Martus, P., Holzhausen, M. et al. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke 44, 340\u2013349 (2013).","journal-title":"Stroke"},{"key":"BFjhg201731_CR14","doi-asserted-by":"publisher","first-page":"1421","DOI":"10.1111\/j.1468-1331.2012.03737.x","volume":"19","author":"H Sarikaya","year":"2012","unstructured":"Sarikaya, H., Yilmaz, M., Michael, N., Miserez, A. R., Steinmann, B. & Baumgartner, R. W. Zurich Fabry study-prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA. Eur. J. Neurol. 19, 1421\u20131426 (2012).","journal-title":"Eur. J. Neurol."},{"key":"BFjhg201731_CR15","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1111\/ene.12214","volume":"21","author":"K Nakamura","year":"2014","unstructured":"Nakamura, K., Sekijima, Y., Hattori, K., Nagamatsu, K., Shimizu, Y., Yazaki, M. et al. p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males. Eur. J. Neurol. 21, 49\u201356 (2014).","journal-title":"Eur. J. Neurol."},{"key":"BFjhg201731_CR16","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1161\/01.STR.24.1.35","volume":"24","author":"HP Adams Jr","year":"1993","unstructured":"Adams, H. P. Jr, Bendixen, B. H., Kappelle, L. J., Biller, J., Love, B. B., Gordon, D. L. et al. Classification of subtype of acute ischemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment. Stroke 24, 35\u201341 (1993).","journal-title":"Stroke"},{"key":"BFjhg201731_CR17","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1016\/S0009-8981(01)00478-8","volume":"308","author":"NA Chamoles","year":"2001","unstructured":"Chamoles, N. A., Blanco, M. & Gaggioli, D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin. Chim. Acta 308, 195\u2013196 (2001).","journal-title":"Clin. Chim. Acta"},{"key":"BFjhg201731_CR18","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1007\/BF03401671","volume":"3","author":"CM Eng","year":"1997","unstructured":"Eng, C. M., Ashley, G. A., Burgert, T. S., Enriquez, A. L., D'souza, M. & Desnick, R. J. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol. Med. 3, 174\u2013182 (1997).","journal-title":"Mol. Med."},{"key":"BFjhg201731_CR19","doi-asserted-by":"publisher","first-page":"788","DOI":"10.1161\/STROKEAHA.108.526293","volume":"40","author":"K Sims","year":"2009","unstructured":"Sims, K., Politei, J., Banikazemi, M. & Lee, P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 40, 788\u2013794 (2009).","journal-title":"Stroke"},{"key":"BFjhg201731_CR20","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1111\/j.1468-1331.2012.03739.x","volume":"19","author":"L Marquardt","year":"2012","unstructured":"Marquardt, L., Baker, R., Segal, H., Burgess, A. I., Poole, D., Hughes, D. A. et al. Fabry disease in unselected patients with TIA or stroke: population-based study. Eur. J. Neurol. 19, 1427\u20131432 (2012).","journal-title":"Eur. J. Neurol."},{"key":"BFjhg201731_CR21","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/S0002-9149(00)01275-3","volume":"87","author":"T Yoshitama","year":"2001","unstructured":"Yoshitama, T., Nakao, S., Takenaka, T., Teraguchi, H., Sasaki, T., Kodama, C. et al. Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. Am. J. Cardiol. 87, 71\u201375 (2001).","journal-title":"Am. J. Cardiol."},{"key":"BFjhg201731_CR22","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1002\/humu.9520","volume":"29","author":"M Shimotori","year":"2008","unstructured":"Shimotori, M., Maruyama, H., Nakamura, G., Suyama, T., Sakamoto, F., Itoh, M. et al. Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. Hum. Mutat. 29, 331 (2008).","journal-title":"Hum. Mutat."},{"key":"BFjhg201731_CR23","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1159\/000250968","volume":"30","author":"H Fujii","year":"2009","unstructured":"Fujii, H., Kono, K., Goto, S., Onishi, T., Kawai, H., Hirata, K. et al. Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease. Am. J. Nephrol. 30, 527\u2013535 (2009).","journal-title":"Am. J. Nephrol."},{"key":"BFjhg201731_CR24","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1038\/jhg.2010.18","volume":"55","author":"K Nakamura","year":"2010","unstructured":"Nakamura, K., Sekijima, Y., Nakamura, K., Hattori, K., Nagamatsu, K., Shimizu, Y. et al. Cerebral hemorrhage in Fabry's disease. J. Hum. Genet. 55, 259\u2013261 (2010).","journal-title":"J. Hum. Genet."},{"key":"BFjhg201731_CR25","doi-asserted-by":"publisher","first-page":"2503","DOI":"10.2169\/internalmedicine.54.4437","volume":"54","author":"Y Tomizawa","year":"2015","unstructured":"Tomizawa, Y., Okuzumi, A., Shiotsuki, H., Noda, K., Hattori, N. & Okuma, Y. A patient with the GLA p.E66Q mutation exhibiting vascular parkinsonism and bilateral pulvinar lesions. Intern. Med. 54, 2503\u20132506 (2015).","journal-title":"Intern. Med."},{"key":"BFjhg201731_CR26","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1038\/jhg.2010.58","volume":"55","author":"BH Lee","year":"2010","unstructured":"Lee, B. H., Heo, S. H., Kim, G. H., Park, J. Y., Kim, W. S., Kang, D. H. et al. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J. Hum. Genet. 55, 512\u2013517 (2010).","journal-title":"J. Hum. Genet."},{"key":"BFjhg201731_CR27","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1016\/j.ymgme.2012.01.010","volume":"105","author":"T Togawa","year":"2012","unstructured":"Togawa, T., Tsukimura, T., Kodama, T., Tanaka, T., Kawashima, I., Saito, S. et al. Fabry disease: biochemical, pathological and structural studies of the alpha-galactosidase A with E66Q amino acid substitution. Mol. Genet. Metab. 105, 615\u2013620 (2012).","journal-title":"Mol. Genet. Metab."},{"key":"BFjhg201731_CR28","doi-asserted-by":"publisher","first-page":"1819","DOI":"10.2169\/internalmedicine.54.3279","volume":"54","author":"A Satomura","year":"2015","unstructured":"Satomura, A., Fujita, T., Nakayama, T., Kusano, H., Takayama, E., Hamada, H. et al. Pathological renal findings of chronic renal failure in a patient with the E66Q mutation in the alpha-galactosidase A gene. Intern. Med. 54, 1819\u20131824 (2015).","journal-title":"Intern. Med."},{"key":"BFjhg201731_CR29","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/j.ymgme.2012.10.018","volume":"107","author":"M Kobayashi","year":"2012","unstructured":"Kobayashi, M., Ohashi, T., Fukuda, T., Yanagisawa, T., Inomata, T., Nagaoka, T. et al. No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the alpha-galactosidase A gene. Mol. Genet. Metab. 107, 711\u2013715 (2012).","journal-title":"Mol. Genet. Metab."},{"key":"BFjhg201731_CR30","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1002\/humu.10275","volume":"22","author":"M Yasuda","year":"2003","unstructured":"Yasuda, M., Shabbeer, J., Benson, S. D., Maire, I., Burnett, R. M. & Desnick, R. J. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum. Mutat. 22, 486\u2013492 (2003).","journal-title":"Hum. Mutat."},{"key":"BFjhg201731_CR31","doi-asserted-by":"publisher","first-page":"629","DOI":"10.2215\/CJN.08780812","volume":"8","author":"H Maruyama","year":"2013","unstructured":"Maruyama, H., Takata, T., Tsubata, Y., Tazawa, R., Goto, K., Tohyama, J. et al. Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine. Clin. J. Am. Soc. Nephrol. 8, 629\u2013636 (2013).","journal-title":"Clin. J. Am. Soc. Nephrol."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/jhg201731","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/jhg201731.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/jhg.2017.31","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/www.nature.com\/articles\/jhg201731.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T03:03:33Z","timestamp":1641006213000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201731"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,9]]},"references-count":31,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["BFjhg201731"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2017.31","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,9]]},"assertion":[{"value":"25 November 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 February 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 February 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2017","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"}]}}