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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Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
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Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.
Pediatrics. 2007 Nov;120(5):e1327-34. doi: 10.1542/peds.2007-0388.
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