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Zeitschrift fur Rheumatologie, 2011
Lysosomal storage diseases are a heterogeneous group of disorders caused by lysosomal enzyme dysfunction. Individually they are very rare, but this group as a whole has a prevalence of more than 1:8,000 live births. While severe phenotypes are easily diagnosed this can be a real challenge with attenuated forms.
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Lysosomal storage diseases are a heterogeneous group of disorders caused by lysosomal enzyme dysfunction. Individually they are very rare, but this group as a whole has a prevalence of more than 1:8,000 live births. While severe phenotypes are easily diagnosed this can be a real challenge with attenuated forms.
openaire +1 more source
Enzyme Replacement Therapy: A Review and Its Role in Treating Lysosomal Storage Diseases.
Pediatric annals, 2018Mindy Li
semanticscholar +1 more source
Subcellular Nanorheology Reveals Lysosomal Viscosity as a Reporter for Lysosomal Storage Diseases.
Nano letters (Print), 2018J. Devany +2 more
semanticscholar +1 more source
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases
Journal of Inherited Metabolic Disease, 2017Afshin Saffari +3 more
semanticscholar +1 more source
Gene therapy for lysosomal storage diseases and peroxisomal diseases
Journal of Human Genetics, 2018T. Ohashi
semanticscholar +1 more source