Article
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.
Pediatric research - 1 Jan 2006
Böhm Marek, Pronicka Ewa, Karczmarewicz Elzbieta, Pronicki Maciej, Piekutowska-Abramczuk Dorota, Sykut-Cegielska Jolanta, Mierzewska Hanna, Hansikova Hana, Vesela Katerina, Tesarova Marketa, Houstkova Hana, Houstek Josef, Zeman Jiri
Abstract excerpt
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features, prognosis, and molecular bases of the COX deficiency. Clinical symptoms including failure to thrive, encephalopathy, hypotony, Leigh syndrome, cardiac involvement, and hepatopathy appeared in most patients early after birth or in early childhood. Two thirds of all children died....
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