Article
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
Lancet (London, England) - 28 Jan 2012
Mechtler Thomas P, Stary Susanne, Metz Thomas F, De Jesús Víctor R, Greber-Platzer Susanne, Pollak Arnold, Herkner Kurt R, Streubel Berthold, Kasper David C
Abstract excerpt
BACKGROUND: 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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.