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Journal Abstract Search

153 related items for PubMed ID: 9367300

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  • 4. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
    Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F.
    J Pediatr; 1994 Jan; 124(1):79-86. PubMed ID: 8283379
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  • 7. Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
    Bulut FD, Kör D, Şeker-Yılmaz B, Gül-Mert G, Kılavuz S, Önenli-Mungan N.
    Metab Brain Dis; 2018 Jun; 33(3):977-979. PubMed ID: 29159724
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  • 8. Leigh syndrome in an infant resulting from mitochondrial DNA depletion.
    Absalon MJ, Harding CO, Fain DR, Li L, Mack KJ.
    Pediatr Neurol; 2001 Jan; 24(1):60-3. PubMed ID: 11182283
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  • 9. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
    Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S443-53. PubMed ID: 20978941
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  • 10. An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.
    Pavlou E, Augoustides-Savvopoulou P, Gregersen N, Haas D, Gkampeta A, Athanassiadou-Piperopoulou F.
    J Child Neurol; 2013 May; 28(5):668-71. PubMed ID: 22805253
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  • 14. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.
    Hung PC, Wang HS.
    Dev Med Child Neurol; 2007 Jan; 49(1):65-7. PubMed ID: 17209980
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  • 16. Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy.
    Haginoya K, Miyabayashi S, Iinuma K, Okino E, Maesaka H, Tada K.
    Pediatr Neurol; 1992 Jan; 8(1):13-8. PubMed ID: 1313674
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  • 17. SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.
    Moslemi AR, Tulinius M, Darin N, Aman P, Holme E, Oldfors A.
    Neurology; 2003 Oct 14; 61(7):991-3. PubMed ID: 14557577
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  • 18. Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation.
    Peake RWA, Rodan LH.
    Clin Chem; 2017 Nov 14; 63(11):1771-1773. PubMed ID: 29089323
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  • 19. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.
    Tulinius M, Moslemi AR, Darin N, Westerberg B, Wiklund LM, Holme E, Oldfors A.
    Neuropediatrics; 2003 Apr 14; 34(2):87-91. PubMed ID: 12776230
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  • 20. Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency.
    Savasta S, Comi GP, Perini MP, Lupi A, Strazzer S, Rognoni F, Rossoni R.
    J Child Neurol; 2001 Aug 14; 16(8):608-13. PubMed ID: 11510937
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