Public support for neonatal screening for Pompe disease, a broad-phenotype condition

@inproceedings{Weinreich2012PublicSF,
  title={Public support for neonatal screening for Pompe disease, a broad-phenotype condition},
  author={Stephanie Shifra Weinreich and Tessel Rigter and Carla G van El and Wybo Dondorp and Piet J. Kostense and Ans T van der Ploeg and Arnold J. J. Reuser and Martina C Cornel and Marloes Louise Catharina Hagemans},
  booktitle={Orphanet journal of rare diseases},
  year={2012}
}
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 than professional experts, while neutral citizens' views were unknown. This study… CONTINUE READING
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