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Journal article

Lysosomal storage diseases

Abstract:

Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most LSDs have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. LSD-associated genes encode di...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41572-018-0025-4

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
Pharmacology
Oxford college:
Merton College
Role:
Author
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Funding agency for:
Platt, F
Grant:
202834/Z/16/Z
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Funding agency for:
Platt, F
Grant:
202834/Z/16/Z
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Funding agency for:
D'Azzo, A
Grant:
GM104981
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Funding agency for:
D'Azzo, A
Grant:
GM104981
More from this funder
Funding agency for:
D'Azzo, A
Grant:
GM104981
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Publisher:
Springer Nature Publisher's website
Journal:
Nature Reviews Disease primers Journal website
Volume:
4
Article number:
27
Publication date:
2018-10-01
Acceptance date:
2018-08-08
DOI:
EISSN:
2056-676X
Pmid:
30275469
Source identifiers:
923944
Language:
English
Pubs id:
pubs:923944
UUID:
uuid:cc61015c-88b1-4e84-ae7b-8a1449a7a462
Local pid:
pubs:923944
Deposit date:
2018-12-12

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