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209 related items for PubMed ID: 27051597

  • 1. Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.
    Tonin R, Caciotti A, Funghini S, Pasquini E, Mooney SD, Cai B, Proncopio E, Donati MA, Baronio F, Bettocchi I, Cassio A, Biasucci G, Bordugo A, la Marca G, Guerrini R, Morrone A.
    BBA Clin; 2016 Jun; 5():114-9. PubMed ID: 27051597
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wolfe L, Jethva R, Oglesbee D, Vockley J.
    ; 1993 Apr 20. PubMed ID: 21938826
    [Abstract] [Full Text] [Related]

  • 6. Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
    Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R.
    Int J Neonatal Screen; 2020 Jun 20; 6(2):. PubMed ID: 32802992
    [Abstract] [Full Text] [Related]

  • 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 20; 127(6):619-28. PubMed ID: 20376488
    [Abstract] [Full Text] [Related]

  • 8. 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 Jun 20; 25(2):279-84. PubMed ID: 26110041
    [Abstract] [Full Text] [Related]

  • 9. 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 20; 471():101-106. PubMed ID: 28532786
    [Abstract] [Full Text] [Related]

  • 10. Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
    Breilyn MS, Kenny EE, Abul-Husn NS.
    Mol Genet Metab; 2023 Jan 20; 138(1):106971. PubMed ID: 36549199
    [Abstract] [Full Text] [Related]

  • 11. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
    van Maldegem BT, Wanders RJ, Wijburg FA.
    J Inherit Metab Dis; 2010 Oct 20; 33(5):507-11. PubMed ID: 20429031
    [Abstract] [Full Text] [Related]

  • 12. Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
    Kılıç M, Ergüner B, Koşukçu C, Özgül RK.
    Turk J Pediatr; 2020 Oct 20; 62(1):19-23. PubMed ID: 32253862
    [Abstract] [Full Text] [Related]

  • 13. [Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated].
    van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA.
    Ned Tijdschr Geneeskd; 2008 Jul 26; 152(30):1678-85. PubMed ID: 18714522
    [Abstract] [Full Text] [Related]

  • 14. Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
    Fogh S, Dipace G, Bie A, Veiga-da-Cunha M, Hansen J, Kjeldsen M, Mosegaard S, Ribes A, Gregersen N, Aagaard L, Van Schaftingen E, Olsen RKJ.
    J Inherit Metab Dis; 2021 Sep 26; 44(5):1215-1225. PubMed ID: 33973257
    [Abstract] [Full Text] [Related]

  • 15. 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 26; 7(4):619-27. PubMed ID: 9499414
    [Abstract] [Full Text] [Related]

  • 16. 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 26; 42(1):13-7. PubMed ID: 21500142
    [Abstract] [Full Text] [Related]

  • 17. Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
    Lin Y, Zhang W, Chen D, Lin C, Zheng Z, Fu Q, Li M, Peng W.
    Clin Chim Acta; 2020 Nov 26; 510():285-290. PubMed ID: 32710939
    [Abstract] [Full Text] [Related]

  • 18. Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
    Kim SH, Park HD, Sohn YB, Park SW, Cho SY, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Yeau S, Paik KH, Jin DK.
    Ann Clin Lab Sci; 2011 Nov 26; 41(1):84-8. PubMed ID: 21325261
    [Abstract] [Full Text] [Related]

  • 19. Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.
    An SJ, Kim SZ, Kim GH, Yoo HW, Lim HH.
    Korean J Pediatr; 2016 Nov 26; 59(Suppl 1):S45-S48. PubMed ID: 28018444
    [Abstract] [Full Text] [Related]

  • 20. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
    Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N.
    Hum Genet; 2008 Aug 26; 124(1):43-56. PubMed ID: 18523805
    [Abstract] [Full Text] [Related]

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