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Journal Abstract Search

118 related items for PubMed ID: 23266819

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  • 4. Hydroxysteroid (17β) dehydrogenase X in human health and disease.
    Yang SY, He XY, Miller D.
    Mol Cell Endocrinol; 2011 Aug 22; 343(1-2):1-6. PubMed ID: 21708223
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  • 5. Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
    Yang SY, He XY, Olpin SE, Sutton VR, McMenamin J, Philipp M, Denman RB, Malik M.
    Proc Natl Acad Sci U S A; 2009 Sep 01; 106(35):14820-4. PubMed ID: 19706438
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  • 6. HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.
    Zschocke J.
    J Inherit Metab Dis; 2012 Jan 01; 35(1):81-9. PubMed ID: 22127393
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  • 11. [Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency].
    Shu JB, Zhang YQ, Jiang SZ, Zhang CH, Meng YT, Wang H, Song L.
    Zhonghua Er Ke Za Zhi; 2013 Oct 01; 51(10):783-6. PubMed ID: 24406234
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  • 15. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
    IJlst L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ.
    J Clin Invest; 1996 Aug 15; 98(4):1028-33. PubMed ID: 8770876
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  • 16. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
    Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ.
    Am J Hum Genet; 2003 May 15; 72(5):1300-7. PubMed ID: 12696021
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  • 19. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.
    Fukao T, Nakamura H, Song XQ, Nakamura K, Orii KE, Kohno Y, Kano M, Yamaguchi S, Hashimoto T, Orii T, Kondo N.
    Hum Mutat; 1998 May 15; 12(4):245-54. PubMed ID: 9744475
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  • 20. Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
    Oerum S, Roovers M, Leichsenring M, Acquaviva-Bourdain C, Beermann F, Gemperle-Britschgi C, Fouilhoux A, Korwitz-Reichelt A, Bailey HJ, Droogmans L, Oppermann U, Sass JO, Yue WW.
    Biochim Biophys Acta Mol Basis Dis; 2017 Dec 15; 1863(12):3294-3302. PubMed ID: 28888424
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