{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:41:43Z","timestamp":1791348103797,"version":"4.3.1"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,9,7]],"date-time":"2010-09-07T00:00:00Z","timestamp":1283817600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Newborn screening for Fabry disease in Taiwan Chinese has revealed a high incidence of the late\u2010onset GLA mutation IVS4\u2009+\u2009919G\u2192A (\u223c1 in 1,500\u20131,600 males). We studied 94 adults with this mutation [22 men, 72 women; mean age: men 57.8\u2009\u00b1\u20096.0 (range 42\u201368), women 39.1\u2009\u00b1\u200914.1 years (range 19\u201382)]. Plasma \u03b1\u2010galactosidase A activity assay was 10.4\u2009\u00b1\u200911.2% of normal in the men and 48.6\u2009\u00b1\u200919.5% of normal in the women. Echocardiography in 90 of the adults revealed left ventricular hypertrophy (LVH) in 19 (21%), including 14 of 21 men (67%) and 5 of 69 women (7%). Microalbuminuria, based on the urine albumin\u2010to\u2010creatinine ratio measured on at least two occasions, was present in 17 of 86 subjects (20%) (men: 5\/20, 25%; women 12\/66, 18%). At least one ocular manifestation consistent with Fabry disease was present in 41 of 52 subjects (79%) who underwent ophthalmologic examination, including 8 (15%) with conjunctival vessel tortuosity, 15 (29%) with cornea verticillata, 10 (19%) with Fabry cataract, and 34 (65%) with retinal vessel tortuosity. Among subjects over 40 years of age, men were more likely than women to have LVH [14\/21 (67%) vs 5\/25 (20%), <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001]. Cardiovascular, renal and ocular abnormalities are highly prevalent in adult Taiwan Chinese subjects with the Fabry mutation IVS4\u2009+\u2009919G\u2192A. Our findings contribute to the limited understanding of the course of this late\u2010onset disease variant and underscore the need for close follow up in such patients.<\/jats:p>","DOI":"10.1007\/s10545-010-9166-7","type":"journal-article","created":{"date-parts":[[2010,9,6]],"date-time":"2010-09-06T07:11:11Z","timestamp":1283757071000},"page":"619-624","source":"Crossref","is-referenced-by-count":29,"title":["Enzyme assay and clinical assessment in subjects with a Chinese hotspot late\u2010onset Fabry mutation (IVS4\u2009+\u2009919G\u2192A)"],"prefix":"10.1002","volume":"33","author":[{"given":"Hsiang\u2010Yu","family":"Lin","sequence":"first","affiliation":[{"name":"Institute of Clinical Medicine National Yang\u2010Ming University No.155, Sec.2, Linong Street Taipei 112 Taiwan"},{"name":"Department of Pediatrics Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng\u2010Hung","family":"Huang","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine National Yang\u2010Ming University No.155, Sec.2, Linong Street Taipei 112 Taiwan"},{"name":"Department of Pediatrics Taipei Veterans General Hospital No. 201, Section 2, Shih\u2010Pai Road Taipei 112 Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiao\u2010Chi","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital No. 201, Section 2, Shih\u2010Pai Road Taipei 112 Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kah\u2010Wai","family":"Chong","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine National Yang\u2010Ming University No.155, Sec.2, Linong Street Taipei 112 Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ju\u2010Hui","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital No. 201, Section 2, Shih\u2010Pai Road Taipei 112 Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pi\u2010Chang","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital No. 201, Section 2, Shih\u2010Pai Road Taipei 112 Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kang\u2010Hsiang","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital No. 201, Section 2, Shih\u2010Pai Road Taipei 112 Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan\u2010Chi","family":"Chiang","sequence":"additional","affiliation":[{"name":"Neonatal Screening Center Chinese Foundation of Health Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huey\u2010Jane","family":"Ho","sequence":"additional","affiliation":[{"name":"Section of Newborn Screening Taipei Institute of Pathology Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuan\u2010Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shih\u2010Jen","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Taipei Veterans General Hospital No. 201, Section 2, Shih\u2010Pai Road Taipei 112 Taiwan"},{"name":"School of Medicine National Yang\u2010Ming University No. 155, Sec. 2, Linong Street Taipei 112 Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Po\u2010Kang","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Taipei Veterans General Hospital No. 201, Section 2, Shih\u2010Pai Road Taipei 112 Taiwan"},{"name":"School of Medicine National Yang\u2010Ming University No. 155, Sec. 2, Linong Street Taipei 112 Taiwan"},{"name":"Graduate Institute of Biomedical Electronic and Bioinformatics National Taiwan University Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau\u2010Ming","family":"Niu","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine National Yang\u2010Ming University No.155, Sec.2, Linong Street Taipei 112 Taiwan"},{"name":"Department of Pediatrics Taipei Veterans General Hospital No. 201, Section 2, Shih\u2010Pai Road Taipei 112 Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,9,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-146-2-200701160-00148"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036327"},{"key":"e_1_2_7_4_1","first-page":"157","article-title":"Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. 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