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Journal Abstract Search

690 related items for PubMed ID: 12815589

  • 21. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
    Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S.
    Mol Genet Metab; 2008 May; 94(1):61-7. PubMed ID: 18289905
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  • 22. Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.
    Christensen E, Kølvraa S, Gregersen N.
    Pediatr Res; 1984 Jul; 18(7):663-7. PubMed ID: 6433313
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  • 23. Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
    Martino S, D'Addabbo P, Turchiano A, Radio FC, Bruselles A, Cordeddu V, Mancini C, Stella A, Laforgia N, Capodiferro D, Simonetti S, Bagnulo R, Palumbo O, Marzano F, Tabaku O, Garganese A, Stasi M, Tartaglia M, Pesole G, Resta N.
    Int J Mol Sci; 2024 Sep 05; 25(17):. PubMed ID: 39273584
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  • 25. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
    Lan MY, Fu MH, Liu YF, Huang CC, Chang YY, Liu JS, Peng CH, Chen SS.
    Clin Genet; 2010 Dec 05; 78(6):565-9. PubMed ID: 20370797
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  • 34. A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.
    Bross P, Pedersen P, Winter V, Nyholm M, Johansen BN, Olsen RK, Corydon MJ, Andresen BS, Eiberg H, Kolvraa S, Gregersen N.
    Mol Genet Metab; 1999 Jun 05; 67(2):138-47. PubMed ID: 10356313
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  • 40. Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
    Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM.
    J Inherit Metab Dis; 2010 Dec 05; 33 Suppl 3(0 3):S481-7. PubMed ID: 21088898
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