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Journal Abstract Search

187 related items for PubMed ID: 22241703

  • 21. Ornithine transcarbamylase deficiency presenting as hepatitis.
    Aronson PL, Mistry RD.
    Pediatr Emerg Care; 2011 Jun; 27(6):527-9. PubMed ID: 21642786
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  • 22. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
    Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.
    Brain; 2007 Mar; 130(Pt 3):862-74. PubMed ID: 17301081
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  • 23. Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
    Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L.
    Eur J Paediatr Neurol; 2012 Sep; 16(5):542-8. PubMed ID: 22342071
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  • 25. Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.
    Wang SB, Weng WC, Lee NC, Hwu WL, Fan PC, Lee WT.
    Pediatr Neonatol; 2008 Aug; 49(4):145-9. PubMed ID: 19054921
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  • 33. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
    Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL.
    Mitochondrion; 2013 Nov; 13(6):656-61. PubMed ID: 24063851
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