Wedatilake, Y;
Brown, R;
McFarland, R;
Yaplito-Lee, J;
Morris, AA;
Champion, M;
Jardine, PE;
... Rahman, S; + view all
(2013)
SURF1 deficiency: a multi-centre natural history study.
Orphanet Journal of Rare Diseases
, 8
(1)
, Article 96. 10.1186/1750-1172-8-96.
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Abstract
SURF1 deficiency, a monogenic mitochondrial disorder, is the most frequent cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS). We report the first natural history study of SURF1 deficiency.
| Type: | Article |
|---|---|
| Title: | SURF1 deficiency: a multi-centre natural history study |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1186/1750-1172-8-96 |
| Publisher version: | http://dx.doi.org/10.1186/1750-1172-8-96 |
| Language: | English |
| Additional information: | © 2013 Wedatilake et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. PMCID: PMC3706230 |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1399719 |
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