{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:41:54Z","timestamp":1791348114047,"version":"4.3.1"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,10,30]],"date-time":"2012-10-30T00:00:00Z","timestamp":1351555200000},"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":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lyso\u2010globotriaosylsphingosine (lyso\u2010Gb<jats:sub>3<\/jats:sub>) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso\u2010Gb<jats:sub>3<\/jats:sub> is elevated in patients with later\u2010onset Fabry disease. Thus, we measured lyso\u2010Gb<jats:sub>3<\/jats:sub> levels from dried blood spots (DBS) from male newborns with the Fabry disease later\u2010onset phenotype, IVS4+919G&gt;A mutation, and their family members. The lyso\u2010Gb<jats:sub>3<\/jats:sub> levels were below the detection limit in normal control newborns and were slightly higher in adults. In males of all ages with the IVS4+919G&gt;A mutation, lyso\u2010Gb<jats:sub>3<\/jats:sub> levels were elevated and were higher than in age\u2010matched controls. The elevation of lyso\u2010Gb<jats:sub>3<\/jats:sub> levels in males with the IVS4+919G&gt;A mutation was only slightly elevated compared with patients with the classical Fabry phenotype. The measurement of lyso\u2010Gb<jats:sub>3<\/jats:sub> levels is useful in the diagnosis of Fabry disease, including the later\u2010onset phenotype. The DBS lyso\u2010Gb<jats:sub>3<\/jats:sub> level was not elevated in IVS4+919G&gt;A heterozygotes, and is not useful for their diagnosis. Since lyso\u2010Gb<jats:sub>3<\/jats:sub> levels are elevated from birth in Fabry disease males, \u201can elevated lyso\u2010Gb<jats:sub>3<\/jats:sub> level\u201d may be of little values for deciding when to begin enzyme replacement therapy.<\/jats:p>","DOI":"10.1007\/s10545-012-9547-1","type":"journal-article","created":{"date-parts":[[2012,10,29]],"date-time":"2012-10-29T18:00:06Z","timestamp":1351533606000},"page":"881-885","source":"Crossref","is-referenced-by-count":21,"title":["Lyso\u2010globotriaosylsphingosine (lyso\u2010Gb<sub>3<\/sub>) levels in neonates and adults with the Fabry disease later\u2010onset <i>GLA<\/i> IVS4+919G&gt;A mutation"],"prefix":"10.1002","volume":"36","author":[{"given":"Yin\u2010Hsiu","family":"Chien","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf A.","family":"Bodamer","sequence":"additional","affiliation":[{"name":"Division of Clinical and Translational Genetics, Department of Human Genetics University of Miami, Miller School of Medicine Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu\u2010Chuan","family":"Chiang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermann","family":"Mascher","sequence":"additional","affiliation":[{"name":"Pharm\u2010analyt Laboratories, Inc. Baden Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Hung","sequence":"additional","affiliation":[{"name":"Division of Clinical and Translational Genetics, Department of Human Genetics University of Miami, Miller School of Medicine Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuh\u2010Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,10,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712309105"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2010.07.038"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-146-2-200701160-00148"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2012.00002"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.0443"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21074"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/339431"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.109.862920"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9166-7"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ehj.2003.09.017"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199508033330504"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2010.05.003"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.11.144"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/504601"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jjcc.2007.12.001"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.08.006"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.03.020"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2010.09.007"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000091253.71282.04"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/422366"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-012-9547-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10545-012-9547-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-012-9547-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-012-9547-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T07:37:00Z","timestamp":1694763420000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-012-9547-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,30]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1007\/s10545-012-9547-1"],"URL":"https:\/\/doi.org\/10.1007\/s10545-012-9547-1","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,30]]}}}