https://scholars.lib.ntu.edu.tw/handle/123456789/525877
標題: | Analysis of lyso-globotriaosylsphingosine in dried blood spots | 作者: | Johnson B. Mascher H. Mascher D. Legnini E. Hung C.Y. Dajnoki A. YIN-HSIU CHIEN Maródi L. WUH-LIANG HWU Bodamer O.A. |
公開日期: | 2013 | 卷: | 33 | 期: | 4 | 起(迄)頁: | 274-278 | 來源出版物: | Annals of Laboratory Medicine | 摘要: | Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be analyzed in dried blood spots (DBS) from filter cards and whether concentrations are elevated in newborn infants with FD. Lyso-Gb3 concentrations were analyzed in DBS following extraction using a novel HPLC-mass spectrometry (MS)/MS method. Lyso-Gb3 levels in DBS were above the lower limit of quantitation (0.28 ng/mL) in 5/17 newborn FD infants (16 males; range: 1.02-8.81 ng/mL), but in none of the newborn controls, in all 13 patients (4 males) with classic FD (range: 2.06-54.1 ng/mL), in 125/159 Taiwanese individuals with symptomatic or asymptomatic FD who carry the late onset a-galactosidase A (GLA) mutation c.936+919G |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84880342952&doi=10.3343%2falm.2013.33.4.274&partnerID=40&md5=9c98c35b4322fb3ac96feef44fb65764 https://scholars.lib.ntu.edu.tw/handle/123456789/525877 |
ISSN: | 2234-3806 | DOI: | 10.3343/alm.2013.33.4.274 | SDG/關鍵字: | globotriaosyl lysosphingolipid; glycolipid; sphingolipid; adolescent; adult; article; blood; blood analysis; child; dried blood spot testing; Fabry disease; female; Filter card; high performance liquid chromatography; human; male; methodology; newborn; tandem mass spectrometry; young adult; Dried blood spot; Fabry disease; Filter card; Tandem mass spectrometry; Adolescent; Adult; Blood Chemical Analysis; Child; Chromatography, High Pressure Liquid; Dried Blood Spot Testing; Fabry Disease; Female; Glycolipids; Humans; Infant, Newborn; Male; Sphingolipids; Tandem Mass Spectrometry; Young Adult |
顯示於: | 醫學系 |
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