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Journal Abstract Search

105 related items for PubMed ID: 24406234

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  • 3. The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
    Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y.
    J Hum Genet; 2014 Nov; 59(11):609-14. PubMed ID: 25231369
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  • 4. 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; 72(5):1300-7. PubMed ID: 12696021
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  • 5. A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
    Yang SY, Dobkin C, He XY, Philipp M, Brown WT.
    Gene; 2013 Feb 25; 515(2):380-4. PubMed ID: 23266819
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  • 9. Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
    Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T.
    Mol Med Rep; 2016 Nov 25; 14(5):4906-4910. PubMed ID: 27748876
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  • 11. Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
    Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS.
    Ann Clin Lab Sci; 2009 Nov 25; 39(4):399-404. PubMed ID: 19880769
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  • 16. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
    Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW.
    N Engl J Med; 1999 Jun 03; 340(22):1723-31. PubMed ID: 10352164
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  • 17. Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition.
    Griffin AC, Strauss AW, Bennett MJ, Ernst LM.
    Pediatr Dev Pathol; 2012 Jun 03; 15(5):368-74. PubMed ID: 22746996
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  • 18. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
    Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J.
    Am J Hum Genet; 2007 Feb 03; 80(2):372-7. PubMed ID: 17236142
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  • 20. First case report of short-chain acyl-CoA dehydrogenase deficiency in China.
    Jiang M, Liu L, Peng M, Liang C, Sheng H, Cai Y.
    J Pediatr Endocrinol Metab; 2012 Feb 03; 25(7-8):795-7. PubMed ID: 23155713
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