Imperial College London

DrPiersDaubeney

Faculty of MedicineNational Heart & Lung Institute

Professor of Practice (Paediatric Cardiology)
 
 
 
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Contact

 

+44 (0)20 7351 8430p.daubeney

 
 
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Location

 

Royal BromptonRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Van:2019:brain/awy310,
author = {Van, Bergen NJ and Guo, Y and Rankin, J and Paczia, N and Becker-Kettern, J and Kremer, LS and Pyle, A and Conrotte, J-F and Ellaway, C and Procopis, P and Prelog, K and Homfray, T and Baptista, J and Baple, E and Wakeling, M and Massey, S and Kay, DP and Shukla, A and Girisha, KM and Lewis, LES and Santra, S and Power, R and Daubeney, P and Montoya, J and Ruiz-Pesini, E and Kovacs-Nagy, R and Pritsch, M and Ahting, U and Thorburn, DR and Prokisch, H and Taylor, RW and Christodoulou, J and Linster, CL and Ellard, S and Hakonarson, H},
doi = {brain/awy310},
journal = {BRAIN},
pages = {50--58},
title = {NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses},
url = {http://dx.doi.org/10.1093/brain/awy310},
volume = {142},
year = {2019}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AU - Van,Bergen NJ
AU - Guo,Y
AU - Rankin,J
AU - Paczia,N
AU - Becker-Kettern,J
AU - Kremer,LS
AU - Pyle,A
AU - Conrotte,J-F
AU - Ellaway,C
AU - Procopis,P
AU - Prelog,K
AU - Homfray,T
AU - Baptista,J
AU - Baple,E
AU - Wakeling,M
AU - Massey,S
AU - Kay,DP
AU - Shukla,A
AU - Girisha,KM
AU - Lewis,LES
AU - Santra,S
AU - Power,R
AU - Daubeney,P
AU - Montoya,J
AU - Ruiz-Pesini,E
AU - Kovacs-Nagy,R
AU - Pritsch,M
AU - Ahting,U
AU - Thorburn,DR
AU - Prokisch,H
AU - Taylor,RW
AU - Christodoulou,J
AU - Linster,CL
AU - Ellard,S
AU - Hakonarson,H
DO - brain/awy310
EP - 58
PY - 2019///
SN - 0006-8950
SP - 50
TI - NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
T2 - BRAIN
UR - http://dx.doi.org/10.1093/brain/awy310
UR - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000462617100012&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
VL - 142
ER -