20080426,21232767,24513544[uid] - Search Results

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2009	1
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Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL. Labrousse P, et al. Mol Genet Metab. 2010 Apr;99(4):379-83. doi: 10.1016/j.ymgme.2009.12.014. Epub 2009 Dec 28. Mol Genet Metab. 2010. PMID: 20080426

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

Chien YH, Lee NC, Huang HJ, Thurberg BL, Tsai FJ, Hwu WL. Chien YH, et al. J Pediatr. 2011 Jun;158(6):1023-1027.e1. doi: 10.1016/j.jpeds.2010.11.053. Epub 2011 Jan 13. J Pediatr. 2011. PMID: 21232767

Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

Liao HC, Chiang CC, Niu DM, Wang CH, Kao SM, Tsai FJ, Huang YH, Liu HC, Huang CK, Gao HJ, Yang CF, Chan MJ, Lin WD, Chen YJ. Liao HC, et al. Clin Chim Acta. 2014 Apr 20;431:80-6. doi: 10.1016/j.cca.2014.01.030. Epub 2014 Feb 7. Clin Chim Acta. 2014. PMID: 24513544

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