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A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

We report on ten individuals with a fatal infantile encephalopathy and/or pulmonary hypertension, leading to death before the age of 15 months. Hyperglycinemia and lactic acidosis were common findings. Glycine cleavage system and pyruvate dehydrogenase complex (PDHC) activities were low. Homozygosit...

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Detalhes bibliográficos
Main Authors: Navarro-Sastre, Aleix, Tort, Frederic, Stehling, Oliver, Uzarska, Marta A., Arranz, José Antonio, del Toro, Mireia, Labayru, M. Teresa, Landa, Joseba, Font, Aida, Garcia-Villoria, Judit, Merinero, Begoña, Ugarte, Magdalena, Gutierrez-Solana, Luis Gonzalez, Campistol, Jaume, Garcia-Cazorla, Angels, Vaquerizo, Julian, Riudor, Encarnació, Briones, Paz, Elpeleg, Orly, Ribes, Antonia, Lill, Roland
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3213398/
https://ncbi.nlm.nih.gov/pubmed/22077971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.10.005
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