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

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 challeng...

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Détails bibliographiques
Auteurs principaux: Weinreich, Stephanie Shifra, Rigter, Tessel, van El, Carla Geertruida, Dondorp, Wybo Jan, Kostense, Pieter Johannes, van der Ploeg, Ans T, Reuser, Arnold JJ, Cornel, Martina Cornelia, Hagemans, Marloes Louise Catharina
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2012
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3351372/
https://ncbi.nlm.nih.gov/pubmed/22413814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-15
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