the AJMG SEQUENCE
Federal committee supports adding Pompe disease to screening panel
Decision is first step toward enabling states to screen newborns for the disorder
Article first published online: 24 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages ix–x, August 2013
How to Cite
(2013), Federal committee supports adding Pompe disease to screening panel. Am. J. Med. Genet., 161: ix–x. doi: 10.1002/ajmg.a.36136
- Issue published online: 24 JUL 2013
- Article first published online: 24 JUL 2013
- Amy Brower. American College of Medical Genetics and Newborn Screening Translational Research Network. Implementation of screening for severe combined immune deficiency. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/meetings/twentyninth/newbornscreeningscid.pdf. Published February 1, 2013. Accessed June 13, 2013.
- 2012. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet Part C Semin Med Genet 160C(1):40–49. , , , , , , .