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Newborn screening for pompe disease? a qualitative study exploring professional views

BACKGROUND: Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may oc...

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Podrobná bibliografie
Hlavní autoři: van El, Carla G, Rigter, Tessel, Reuser, Arnold JJ, van der Ploeg, Ans T, Weinreich, Stephanie S, Cornel, Martina C
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4139142/
https://ncbi.nlm.nih.gov/pubmed/25124044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-14-203
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