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Journal Abstract Search

188 related items for PubMed ID: 18054510

  • 1. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
    Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N.
    Mol Genet Metab; 2008 Feb; 93(2):179-89. PubMed ID: 18054510
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  • 2. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
    Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S.
    Hum Mol Genet; 1998 Apr; 7(4):619-27. PubMed ID: 9499414
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  • 3. A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.
    Young SP, Matern D, Gregersen N, Stevens RD, Bali D, Liu HM, Koeberl DD, Millington DS.
    Clin Chim Acta; 2003 Nov; 337(1-2):103-13. PubMed ID: 14568186
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  • 4. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.
    Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D.
    Mol Genet Metab; 2003 Apr; 78(4):239-46. PubMed ID: 12706374
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  • 5. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
    van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA.
    JAMA; 2006 Aug 23; 296(8):943-52. PubMed ID: 16926354
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  • 7. 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 23; 127(6):619-28. PubMed ID: 20376488
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  • 9. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
    Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY.
    Mol Genet Metab; 2012 May 23; 106(1):55-61. PubMed ID: 22424739
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  • 10. High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
    van Maldegem BT, Kloosterman SF, Janssen WJ, Augustijn PB, van der Lee JH, Ijlst L, Waterham HR, Duran R, Wanders RJ, Wijburg FA.
    Neuropediatrics; 2011 Feb 23; 42(1):13-7. PubMed ID: 21500142
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  • 11. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
    Bok LA, Vreken P, Wijburg FA, Wanders RJ, Gregersen N, Corydon MJ, Waterham HR, Duran M.
    Pediatrics; 2003 Nov 23; 112(5):1152-5. PubMed ID: 14595061
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  • 12. Severe infantile hypotonia with ethylmalonic aciduria: case report.
    Okuyaz C, Ezgü FS, Biberoglu G, Zeviani M, Tiranti V, Yilgör E.
    J Child Neurol; 2008 Jun 23; 23(6):703-5. PubMed ID: 18539996
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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 23; 471():101-106. PubMed ID: 28532786
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  • 16. Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice.
    Kragh PM, Pedersen CB, Schmidt SP, Winter VS, Vajta G, Gregersen N, Bolund L, Corydon TJ.
    Mol Genet Metab; 2007 Jun 23; 91(2):128-37. PubMed ID: 17462936
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  • 17. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.
    Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS.
    Pediatr Res; 2003 Aug 23; 54(2):219-23. PubMed ID: 12736383
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  • 19. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
    Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON.
    Am J Med Genet; 1999 Jan 15; 82(2):177-82. PubMed ID: 9934985
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  • 20. 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 15; 111(3):360-368. PubMed ID: 24485985
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