https://scholars.lib.ntu.edu.tw/handle/123456789/525927
DC 欄位 | 值 | 語言 |
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dc.contributor.author | Dajnoki A. | en_US |
dc.contributor.author | Fekete G. | en_US |
dc.contributor.author | Keutzer J. | en_US |
dc.contributor.author | Orsini J.J. | en_US |
dc.contributor.author | De Jesus V.R. | en_US |
dc.contributor.author | YIN-HSIU CHIEN | en_US |
dc.contributor.author | WUH-LIANG HWU | en_US |
dc.contributor.author | Lukacs Z. | en_US |
dc.contributor.author | M?hl A. | en_US |
dc.contributor.author | Zhang X.K. | en_US |
dc.contributor.author | Bodamer O. | en_US |
dc.creator | Dajnoki A.;Fekete G.;Keutzer J.;Orsini J.J.;De Jesus V.R.;Chien Y.-H.;Wuh-Liang Hwu;Lukacs Z.;M?Hl A.;Zhang X.K.;Bodamer O. | - |
dc.date.accessioned | 2020-12-16T02:25:44Z | - |
dc.date.available | 2020-12-16T02:25:44Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 0009-8981 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-77955056761&doi=10.1016%2fj.cca.2010.03.009&partnerID=40&md5=6b51469ac0de2a5337ae43399a765e81 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/525927 | - |
dc.description.abstract | Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A (GLA). We evaluated a tandem mass spectrometry method to measure GLA activity. Methods: One 3.2. mm punch from a dried blood spot sample (DBS) was incubated with substrate and internal standard in the reaction buffer for 22. h. The resulting product was quantified against internal standard using MS/MS. Results: The median GLA activity of male newborn DBS (N=5025) was 9.85 ± 6.4 μmol/h/l (CI 95% is 9.67-10.02 μmol/h/l); The median GLA activity of female newborns (N=4677) was 10.2 ± 6.3 μmol/h/l (CI 95% is 10.02-10.38 μmol/h/l). The difference between the two subgroups is within assay analytical variation. The GLA activities in the DBS samples from 9 juvenile and adult males with previously identified FD were below 1.64 μmol/h/l. The GLA activities from 32 juvenile and adult females with confirmed FD were below 4.73 μmol/h/l. In 5 (16%) females GLA activities were above the 0.5th percentile of lower limit of CI 95% at 3.18 μmol/h/l. Conclusions: The MS/MS method for Fabry disease newborn screening is robust and can be readily multiplexed with other lysosomal disorders such as Pompe, Gaucher, Niemann-Pick, and Krabbe diseases. ? 2010 Elsevier B.V. | - |
dc.relation.ispartof | Clinica Chimica Acta | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | alpha galactosidase; article; blood analysis; controlled study; enzyme activity; Fabry disease; female; human; male; newborn; newborn screening; priority journal; reference value; tandem mass spectrometry; validity; alpha-Galactosidase; Fabry Disease; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Sex Factors; Tandem Mass Spectrometry | - |
dc.title | Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1016/j.cca.2010.03.009 | - |
dc.identifier.pmid | 20338160 | - |
dc.identifier.scopus | 2-s2.0-77955056761 | - |
dc.relation.pages | 1428-1431 | - |
dc.relation.journalvolume | 411 | - |
dc.relation.journalissue | 19-20 | - |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.grantfulltext | none | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.orcid | 0000-0001-8802-5728 | - |
crisitem.author.orcid | 0000-0001-6690-4879 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學系 |
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