Article
Mitochondrial disease criteria: diagnostic applications in children.
Neurology - 28 Nov 2006
Morava E, van den Heuvel L, Hol F, de Vries M C, Hogeveen M, Rodenburg R J, Smeitink J A M
Abstract excerpt
BACKGROUND: Based on a previous prospective clinical and biochemical study, a consensus mitochondrial disease scoring system was established to facilitate the diagnosis in patients with a suspected mitochondrial disorder. OBJECTIVE: To evaluate the specificity of the diagnostic system, we applied the mitochondrial disease score in 61 children with a multisystem disease and a suspected oxidative phosphorylation...
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