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Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.

Abstract:

Sandhoff disease is a lysosomal storage disorder characterized by G(M2) ganglioside accumulation in the central nervous system (CNS) and periphery. It results from mutations in the HEXB gene, causing a deficiency in beta-hexosaminidase. Bone marrow transplantation (BMT), which augments enzyme levels, and substrate deprivation (using the glycosphingolipid biosynthesis inhibitor N-butyldeoxynojirimycin [NB-DNJ]) independently have been shown to extend life expectancy in a mouse model of Sandhof...

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Publication status:
Published

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Publisher copy:
10.1182/blood.v97.1.327

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Journal:
Blood
Volume:
97
Issue:
1
Pages:
327-329
Publication date:
2001-01-01
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
Source identifiers:
100947
Language:
English
Keywords:
Pubs id:
pubs:100947
UUID:
uuid:0657fbfe-2adb-46ee-97b2-c71271b5a814
Local pid:
pubs:100947
Deposit date:
2012-12-19

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