lysosomal storage disorders
Novel diagnostics for Rare Disorders: Fabry in females, presented at WorldSymposium
7. März 2018
The parallel measurement of lyso-GL-3 (lyso-Gb3) for Fabry disease is of high importance particularly for potential female Fabry patients,...
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Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria
29. November 2011
Background: The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement...
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