Journal of Pediatrics, 2011, Vol.158(6), pp.1023-1027.e1
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.jpeds.2010.11.053 Byline: Yin-Hsiu Chien (a)(b), Ni-Chung Lee (a)(b), Hsiang-Ju Huang (b), Beth L. Thurberg (e), Fuu-Jen Tsai (c), Wuh-Liang Hwu (a)(b)(d) Abbreviations: CK, Creatine kinase; ERT, Enzyme replacement therapy; GMQ, Gross motor quotient; GAA, Acid [alpha]-glucosidase; NBS, Newborn screening; PDMS-II, Peabody Developmental Motor Scale, Second Edition Abstract: To determine whether newborn screening facilitates early detection and thereby early treatment initiation for later-onset Pompe disease. Author Affiliation: (a) Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan (b) Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan (c) College of Chinese Medicine, Taichung, Taiwan (d) Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan (e) Department of Pathology, Genzyme Corporation, Framingham, MA Article History: Received 16 July 2010; Revised 19 October 2010; Accepted 19 November 2010 Article Note: (footnote) Partially supported by a grant from the Taiwanese National Science Council (NSC96-2314-B-002-044-MY3). Y.C. has received honoraria and research grant funding from Genzyme. W.H. has received honoraria, travel funding, and research grant funding from and serves on an advisory board for Genzyme. B.T. is a full-time employee of Genzyme Corporation. The other authors declare no conflicts of interest.
Medical Schools ; Enzymes ; Medical Genetics ; Health Screening ; Creatine Kinase ; Newborn Infants ; Creatine
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