DC 欄位 | 值 | 語言 |
dc.contributor | 臺大醫院;臺大醫院-小兒部;臺大醫院-基因醫學部;臺大醫學院-小兒科;臺大醫學院-醫學系; | en |
dc.contributor.author | Chiang, Shu-Chuan | en |
dc.contributor.author | Hwu, Wuh-Liang | en |
dc.creator | Chiang, Shu-Chuan;Hwu, Wuh-Liang;Lee, Ni-Chung;Hsu, Li-Wen;Chien, Yin-Hsiu | en |
dc.creator | 胡務亮 ;李妮鍾 ;簡穎秀 ;蔣書娟 ;徐儷文 | zh-tw |
dc.date | 2012 | en |
dc.date.accessioned | 2014-02-14T09:04:10Z | - |
dc.date.accessioned | 2018-07-11T18:31:21Z | - |
dc.date.available | 2014-02-14T09:04:10Z | - |
dc.date.available | 2018-07-11T18:31:21Z | - |
dc.date.issued | 2012 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/259678 | - |
dc.description.abstract | Background: Pompe disease is caused by a deficiency in acid alpha-glucosidase (GAA) and results in progressive, debilitating, and often life-threatening symptoms. Newborn screening has led to the early diagnosis of Pompe disease, but the best algorithm for screening has not yet been established.
Materials and methods: GAA and neutral alpha-glucosidase (NAG) activities in dried blood spots (DBSs) were assayed using 4-methylumbelliferyl-beta-D-glucopyranoside as the substrate. We also measure alpha-galactosidase A (GLA) activity in DBSs for comparison. A total of 473,738 newborns were screened for Pompe disease, and the data were analyzed retrospectively to determine the best screening algorithm.
Results: The fluorescence assay used in the screening possessed good reproducibility, but the NAG/GAA ratio was superior in separating the true-positive from the false-positive cases. An NAG/GAA cutoff ratio >= 60 produces a positive predictive value (PPV) of 63.4%, and in our sample, only two cases of later-onset Pompe disease would have been missed. The GLA/GAA ratio is not as effective as the NAG/GAA ratio.
Conclusion: A suitable control enzyme can improve the performance of newborn screening. Newborn screening for Pompe disease can be performed using the NAG/GAA ratio as a cutoff even in the presence of GAA partial deficiency. (C) 2012 Elsevier Inc. All rights reserved. | en |
dc.format.extent | 109 bytes | - |
dc.format.mimetype | text/html | - |
dc.language | en-us | en |
dc.relation | Mol. Genet. Metab., 106(3), 281-286 | en |
dc.relation.ispartof | Mol. Genet. Metab. | - |
dc.subject | Pompe disease | en |
dc.subject | Newborn screening | en |
dc.subject | Alpha-glucosidase | en |
dc.subject | Lysosomal storage disease | en |
dc.subject | Dried blood spot testing | en |
dc.title | Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program | en |
dc.relation.pages | 281-286 | - |
dc.relation.journalvolume | 106 | - |
dc.relation.journalissue | 3 | - |
dc.identifier.uri.fulltext | http://ntur.lib.ntu.edu.tw/bitstream/246246/259678/1/index.html | - |
item.fulltext | with fulltext | - |
item.grantfulltext | open | - |
顯示於: | 醫學系
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