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Fetal gene therapy for neurodegenerative disease of infants

Abstract:

For inherited genetic diseases, fetal gene therapy offers the potential of prophylaxis against early, irreversible and lethal pathological change. To explore this, we studied neuronopathic Gaucher disease (nGD), caused by mutations in GBA. In adult patients, the milder form presents with hepatomegaly, splenomegaly and occasional lung and bone disease; this is managed, symptomatically, by enzyme replacement therapy. The acute childhood lethal form of nGD is untreatable since enzyme cannot cros...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1038/s41591-018-0106-7

Authors


Massaro, G More by this author
Mattar, CNZ More by this author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
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Funding agency for:
Huebecker, M
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Funding agency for:
Platt, FM
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Funding agency for:
Platt, FM
Publisher:
Springer Nature Publisher's website
Journal:
Nature Medicine Journal website
Volume:
24
Pages:
1317–1323
Publication date:
2018-07-16
Acceptance date:
2018-05-25
DOI:
ISSN:
1078-8956
Pubs id:
pubs:854808
URN:
uri:805c653c-1d26-42b1-bdc3-91113741f06f
UUID:
uuid:805c653c-1d26-42b1-bdc3-91113741f06f
Local pid:
pubs:854808

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