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Substrate reduction therapy

Abstract:

The glycosphingolipidoses are a family of storage diseases that arise due to incomplete catabolism of glycosphingolipids (GSLs) in the lysosome (Wraith, 2002). The majority are autosomal recessive disorders and result from mutations in the genes that encode the catabolic enzymes of the lysosome (Winchester, 2004). Clinically they are highly variable (Beck, 2001) but typically have a neurodegenerative course and commonly present in infancy or early childhood (Wraith, 2004). Adult-onset variant...

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Publisher:
Springer US
Host title:
Lysosomal Storage Disorders
Pages:
153-168
Publication date:
2007-01-01
DOI:
ISBN:
9780387709086
Pubs id:
pubs:196867
UUID:
uuid:b7dea545-2b6d-4b94-980e-b5265fb5b37c
Local pid:
pubs:196867
Source identifiers:
196867
Deposit date:
2015-03-13

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