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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: van El, Carla G, Rigter, Tessel, Reuser, Arnold JJ, van der Ploeg, Ans T, Weinreich, Stephanie S, Cornel, Martina C
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2014
Gaiak:
Research Article
Sarrera elektronikoa: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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