Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies
R. Brady
Dec 1, 2003
Citations
16
Citations
Journal
Acta Pædiatrica
Full text
Semantic Scholar
Key Takeaway Key Takeaway: Gaucher and Fabry diseases have progressed from metabolic abnormalities to enzyme replacement therapy and gene therapy, with gene therapy showing initial promise.
Abstract
Over the past 40 years there has been remarkable development in our understanding of the pathophysiology of lysosomal storage disorders. This review describes the research carried out on the sphingolipid storage disorders from the first demonstration of the underlying metabolic abnormality in Gaucher disease to the development of enzyme replacement therapy for Gaucher and Fabry diseases. Initial developments in gene therapy are also described.
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