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Journal Abstract Search

239 related items for PubMed ID: 24685553

  • 1. Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.
    Wang W, Mohsen AW, Uechi G, Schreiber E, Balasubramani M, Day B, Michael Barmada M, Vockley J.
    Mol Genet Metab; 2014 May; 112(1):30-9. PubMed ID: 24685553
    [Abstract] [Full Text] [Related]

  • 2. Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
    Edhager AV, Stenbroen V, Nielsen NS, Bross P, Olsen RKJ, Gregersen N, Palmfeldt J.
    Mol Genet Metab; 2014 Mar; 111(3):360-368. PubMed ID: 24485985
    [Abstract] [Full Text] [Related]

  • 3. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
    van Maldegem BT, Wanders RJ, Wijburg FA.
    J Inherit Metab Dis; 2010 Oct; 33(5):507-11. PubMed ID: 20429031
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  • 4. Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.
    van Eunen K, Volker-Touw CM, Gerding A, Bleeker A, Wolters JC, van Rijt WJ, Martines AM, Niezen-Koning KE, Heiner RM, Permentier H, Groen AK, Reijngoud DJ, Derks TG, Bakker BM.
    BMC Biol; 2016 Dec 07; 14(1):107. PubMed ID: 27927213
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  • 5. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
    Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P.
    Hum Mutat; 2001 Sep 07; 18(3):169-89. PubMed ID: 11524729
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  • 7. Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism.
    Pougovkina O, Te Brinke H, Wanders RJ, Houten SM, de Boer VC.
    J Inherit Metab Dis; 2014 Sep 07; 37(5):709-14. PubMed ID: 24531926
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  • 8. Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
    Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M.
    Hum Genet; 2010 Jun 07; 127(6):619-28. PubMed ID: 20376488
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  • 9. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.
    Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA.
    Mol Genet Metab; 2005 May 07; 85(1):7-11. PubMed ID: 15862275
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  • 10. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.
    Spiekerkoetter U.
    J Inherit Metab Dis; 2010 Oct 07; 33(5):527-32. PubMed ID: 20449660
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  • 11. Tissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid β-oxidation.
    Tucci S, Herebian D, Sturm M, Seibt A, Spiekerkoetter U.
    PLoS One; 2012 Oct 07; 7(9):e45429. PubMed ID: 23024820
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  • 13. Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
    Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J.
    Clin Chim Acta; 2017 Aug 07; 471():101-106. PubMed ID: 28532786
    [Abstract] [Full Text] [Related]

  • 14. Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice.
    Tolwani RJ, Hamm DA, Tian L, Sharer JD, Vockley J, Rinaldo P, Matern D, Schoeb TR, Wood PA.
    PLoS Genet; 2005 Aug 07; 1(2):e23. PubMed ID: 16121256
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  • 15. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
    Stanley CA.
    Adv Pediatr; 1987 Aug 07; 34():59-88. PubMed ID: 3318304
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  • 16. Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.
    Odendaal C, Jager EA, Martines AMF, Vieira-Lara MA, Huijkman NCA, Kiyuna LA, Gerding A, Wolters JC, Heiner-Fokkema R, van Eunen K, Derks TGJ, Bakker BM.
    BMC Biol; 2023 Sep 04; 21(1):184. PubMed ID: 37667308
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  • 17. A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
    Lampret BR, Murko S, Debeljak M, Tansek MZ, Fister P, Battelino T.
    Biochem Med (Zagreb); 2015 Sep 04; 25(2):279-84. PubMed ID: 26110041
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  • 18. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.
    Baruteau J, Sachs P, Broué P, Brivet M, Abdoul H, Vianey-Saban C, Ogier de Baulny H.
    J Inherit Metab Dis; 2013 Sep 04; 36(5):795-803. PubMed ID: 23053472
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  • 19. Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector.
    Conlon TJ, Walter G, Owen R, Cossette T, Erger K, Gutierrez G, Goetzman E, Matern D, Vockley J, Flotte TR.
    Hum Gene Ther; 2006 Jan 04; 17(1):71-80. PubMed ID: 16409126
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  • 20. An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
    Lisyová J, Chandoga J, Jungová P, Repiský M, Knapková M, Machková M, Dluholucký S, Behúlová D, Šaligová J, Potočňáková Ľ, Lysinová M, Böhmer D.
    BMC Med Genet; 2018 Apr 20; 19(1):64. PubMed ID: 29678161
    [Abstract] [Full Text] [Related]

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