Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
Abstract
Summary null Background null The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement therapies, the need for early diagnosis, and technical advances. We tested for Gaucher's disease, Pompe's disease, Fabry's disease, and Niemann-Pick disease types A and B in an anonymous prospective nationwide screening study that included genetic mutation analysis to assess the...
Paper Details
Title
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
Published Date
Jan 28, 2012
Journal
Volume
379
Issue
9813
Pages
335 - 341
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Notes
History