Article
Public support for neonatal screening for Pompe disease, a broad-phenotype condition.
Orphanet journal of rare diseases - 14 Mar 2012
Weinreich Stephanie Shifra, Rigter Tessel, van El Carla Geertruida, Dondorp Wybo Jan, Kostense Pieter Johannes, van der Ploeg Ans T, Reuser Arnold J J, Cornel Martina Cornelia, Hagemans Marloes Louise Catharina
Abstract excerpt
BACKGROUND: Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier screening flags both classic infantile and late-onset Pompe disease, which challenges current screening criteria. Previously, advocacy groups have sometimes supported expanded neonatal screening more...
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