AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement
Abstract
Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic disorders,...
Paper Details
Title
AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement
Published Date
Apr 1, 2020
Journal
Volume
52
Issue
4
Pages
359 - 367
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History