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Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

Abstract:

In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes. Liver disease is a common feature presenting either acutely as cholestatic jaundice in the neonatal period, or in later life as elevated liver enzymes indicative of liver dysfunction. Recently...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.12688/wellcomeopenres.11854.1

Authors


Evans, WRH More by this author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
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ORCID:
0000-0001-6494-7613
Movsesyan, N More by this author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
Oxford college:
Merton College
ORCID:
0000-0001-7614-0403
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Funding agency for:
Nicoli, E-R
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Funding agency for:
Platt, FM
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Funding agency for:
Platt, FM
Niemann-Pick Research Foundation More from this funder
Publisher:
F1000Research Publisher's website
Journal:
Wellcome Open Research Journal website
Volume:
2
Pages:
Article: 75
Publication date:
2017-08-31
Acceptance date:
2017-10-20
DOI:
EISSN:
2398-502X
Pubs id:
pubs:746176
URN:
uri:5fb55fa2-e6aa-405d-999e-e0edc3b69a60
UUID:
uuid:5fb55fa2-e6aa-405d-999e-e0edc3b69a60
Local pid:
pubs:746176

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