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| Title: | The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report. |
| Author(s): | Coenen, M.J.H. (27403364X)
Smeitink, J.A.M. (097665606)
Farhoud, M.H. (298978253)
Nijtmans, L.G.J. (298975106)
Rodenburg, R.J.T. (148271820)
Janssen, A.
Kaauwen, P.M. van (298209462)
Trijbels, J.M.F. (074011189)
Heuvel, L.P.W.J. van den (07499316X) |
| Publication year: | 2006 |
| Document type: | Article / Letter to editor |
| Journal: | Journal of Inherited Metabolic Disease |
| ISSN: | 0141-8955 |
| Volume: | vol. 29 |
| Issue: | iss. 1 |
| Start page: | p. 212 |
| End page: | p. 213 |
| Abstract: | Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency. |
| Subject: | UMCN 5.1: Genetic defects of metabolism
UMCN 5.3: Cellular energy metabolism |
| Organization: | Epidemiology, Biostatistics & HTA
Paediatrics
UMCN Extern |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/51010
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