Development of Newborn Screening for Pompe Disease.
作者信息
Hwu Wuh-Liang, Chien Yin-Hsiu
机构信息
Department of Pediatrics, National Taiwan University Hospital, Taipei 10041, Taiwan;
Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan.
出版信息
Int J Neonatal Screen. 2020 Jan 24;6(1):5. doi: 10.3390/ijns6010005. eCollection 2020 Mar.
Abstract
摘要
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本文引用的文献
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High-throughput assay of 9 lysosomal enzymes for newborn screening.高通量检测新生儿筛查中 9 种溶酶体酶。
Clin Chem. 2013 Mar;59(3):502-11. doi: 10.1373/clinchem.2012.189936. Epub 2013 Jan 11.
2
Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.庞贝氏症新生儿筛检之演算法则：来自台湾筛检计画的结果。
Mol Genet Metab. 2012 Jul;106(3):281-6. doi: 10.1016/j.ymgme.2012.04.013. Epub 2012 Apr 24.
3
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.迟发性庞贝病：新生儿筛查可实现早期发现和早期治疗启动。
J Pediatr. 2011 Jun;158(6):1023-1027.e1. doi: 10.1016/j.jpeds.2010.11.053. Epub 2011 Jan 13.
4
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.庞贝病新生儿筛查试点项目中的遗传杂合性和假缺陷。
Mol Genet Metab. 2010 Apr;99(4):379-83. doi: 10.1016/j.ymgme.2009.12.014. Epub 2009 Dec 28.
5
Pompe disease in infants: improving the prognosis by newborn screening and early treatment.婴儿庞贝病：通过新生儿筛查和早期治疗改善预后
Pediatrics. 2009 Dec;124(6):e1116-25. doi: 10.1542/peds.2008-3667.
6
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).台湾地区对法布里病进行的新生儿筛查显示，迟发型GLA突变c.936+919G>A（IVS4+919G>A）的发病率很高。
Hum Mutat. 2009 Oct;30(10):1397-405. doi: 10.1002/humu.21074.
7
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.通过新生儿筛查早期发现庞贝病是可行的：台湾筛查项目的结果
Pediatrics. 2008 Jul;122(1):e39-45. doi: 10.1542/peds.2007-2222. Epub 2008 Jun 2.
8
Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.庞贝氏病的新生儿筛查：证据综合与筛查建议的制定
Pediatrics. 2007 Nov;120(5):e1327-34. doi: 10.1542/peds.2007-0388.
9
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.重组人酸性α-葡萄糖苷酶：对婴儿型庞贝病的主要临床益处。
Neurology. 2007 Jan 9;68(2):99-109. doi: 10.1212/01.wnl.0000251268.41188.04. Epub 2006 Dec 6.
10
Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.酶替代疗法治疗婴儿型庞贝病的脑发育情况
Pediatr Res. 2006 Sep;60(3):349-52. doi: 10.1203/01.pdr.0000233014.84318.4e. Epub 2006 Jul 20.
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