{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T10:43:33Z","timestamp":1789814613582,"version":"4.0.1"},"reference-count":16,"publisher":"Japanese Society of Internal Medicine","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2019,2,15]]},"DOI":"10.2169\/internalmedicine.0959-18","type":"journal-article","created":{"date-parts":[[2018,10,16]],"date-time":"2018-10-16T18:30:11Z","timestamp":1539714611000},"page":"603-607","source":"Crossref","is-referenced-by-count":17,"title":["Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation"],"prefix":"10.2169","volume":"58","author":[{"given":"Saori","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tasuku","family":"Nagasawa","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Japanese Red Cross Ishinomaki Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichiro","family":"Sugimura","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuhiro","family":"Kanno","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Japan Community Health Care Organization, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunsuke","family":"Tatebe","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuo","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruka","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuya","family":"Kozu","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryo","family":"Konno","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kotaro","family":"Nochioka","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimio","family":"Satoh","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Shimokawa","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Clarke JT. Narrative review: Fabry disease. Ann Intern Med 146: 425-433, 2007.","DOI":"10.7326\/0003-4819-146-6-200703200-00007"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34: 236-242, 2004.","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Cammarata G, Fatuzzo P, Rodolico MS, et al. High variability of Fabry disease manifestations in an extended Italian family. Biomed Res Int, 2015 (Epub ahead of print).","DOI":"10.1155\/2015\/504784"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Rigoldi M, Concolino D, Morrone A, et al. Intrafamilial phenotypic variability in four families with Anderson-Fabry disease. Clin Genet 86: 258-263, 2014.","DOI":"10.1111\/cge.12261"},{"key":"5","unstructured":"5. Densnick RJ, Ioannou YA, Eng CM. \u03b1-Galactosidase A dificiency: Fabry disease. In: The Metabolic and Molecular Beses of Inherited Disease. 8th ed. McGraw-Hill, New York, 2001: 3733-3774."},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry&apos;s disease in men with left ventricular hypertrophy. N Eng J Med 333: 288-293, 1995.","DOI":"10.1056\/NEJM199508033330504"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Nakao S, Kodama C, Takenaka T, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a &quot;renal variant&quot; phenotaype. Kidney Int 64: 801-807, 2003.","DOI":"10.1046\/j.1523-1755.2003.00160.x"},{"key":"8","unstructured":"8. Sakuraba H, Oshima A, Fukuhara Y, et al. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet 47: 784-789, 1990."},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Pan X, Ouyang Y, Wang Z. Genotype: A crucial but not unique factor affecting the clinical phenotypes in Fabry Disease. PLoS One 11: e0161330, 2016.","DOI":"10.1371\/journal.pone.0161330"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Politei J, Schenone AB, Cabrera G, Heguilen R, Szlago M. Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations-different outcome? Clin Genet 89: 88-92, 2016.","DOI":"10.1111\/cge.12590"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Deegan PB, Baehner AF, Barba Romero MA, Hughes PA, Kampmann C, Beck C; on behalf of the European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Gent 43: 347-352, 2006.","DOI":"10.1136\/jmg.2005.036327"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. von Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry&apos;s disease with manifestations confined to the myocardium. N Engl J Med 324: 395-399, 1991.","DOI":"10.1056\/NEJM199102073240607"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Pinto LL, Vieira TA, Giugliani R, Schwartz IV. Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. Orphanet J Rare Dis 5: 14-24, 2010.","DOI":"10.1186\/1750-1172-5-14"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Juchniewicz P, Kloska A, Tylki-Szymanska A, et al. Female Fabry disease patients and X-chromosome inactivation. Gene 641: 259-264, 2018.","DOI":"10.1016\/j.gene.2017.10.064"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Hassan S, Sidransky E, Tayebi N. The role of epigenetics in lysosomal strage disorder: uncharted territory. Mol Genet Metab 122: 10-18, 2017.","DOI":"10.1016\/j.ymgme.2017.07.012"},{"key":"16","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s41100-016-0081-8","volume":"2","author":"A Saito","year":"2016","unstructured":"16. Saito A, Kimura T, Takeuchi Y, et al. A case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT). Renal Replacement Therapy 2: 69-78, 2016.","journal-title":"Renal Replacement Therapy","ISSN":"https:\/\/id.crossref.org\/issn\/2059-1381","issn-type":"print"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/58\/4\/58_0959-18\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,2,15]],"date-time":"2019-02-15T23:44:47Z","timestamp":1550274287000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/58\/4\/58_0959-18\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,15]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.0959-18","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,15]]}}}