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142 related items for PubMed ID: 12872838

  • 1. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene.
    Seidel J, Streck S, Bellstedt K, Vianey-Saban C, Pedersen CB, Vockley J, Korall H, Roskos M, Deufel T, Trefz KF, Sewell AC, Kauf E, Zintl F, Lehnert W, Gregersen N.
    J Inherit Metab Dis; 2003; 26(1):37-42. PubMed ID: 12872838
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
    Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N.
    Pediatr Res; 2001 Jan; 49(1):18-23. PubMed ID: 11134486
    [Abstract] [Full Text] [Related]

  • 5. 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; 112(5):1152-5. PubMed ID: 14595061
    [Abstract] [Full Text] [Related]

  • 6. Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.
    Pedersen CB, Zolkipli Z, Vang S, Palmfeldt J, Kjeldsen M, Stenbroen V, Schmidt SP, Wanders RJ, Ruiter JP, Wibrand F, Tein I, Gregersen N.
    J Inherit Metab Dis; 2010 Jun; 33(3):211-22. PubMed ID: 20443061
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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; 44(5):1215-1225. PubMed ID: 33973257
    [Abstract] [Full Text] [Related]

  • 9. 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; 124(1):43-56. PubMed ID: 18523805
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
    Battisti C, Forte F, Molinelli M, Funghini S, Pasquini E, Tassini M, Dotti MT, Federico A.
    Neurol Sci; 2007 Dec; 28(6):328-30. PubMed ID: 18175080
    [Abstract] [Full Text] [Related]

  • 12. 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; 471():101-106. PubMed ID: 28532786
    [Abstract] [Full Text] [Related]

  • 13. 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(6):703-5. PubMed ID: 18539996
    [Abstract] [Full Text] [Related]

  • 14. Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
    Merinero B, Pérez-Cerdá C, Ruiz Sala P, Ferrer I, García MJ, Martínez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hernández E, Vianey-Saban C, Bischoff C, Gregersen N, Ugarte M.
    J Inherit Metab Dis; 2006 Oct; 29(5):685. PubMed ID: 16906473
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation.
    Birkebaek NH, Simonsen H, Gregersen N.
    Acta Paediatr; 2002 Apr 20; 91(4):480-2. PubMed ID: 12061367
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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]

  • 19. Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
    van Maldegem BT, Duran M, Wanders RJ, Waterham HR, Wijburg FA.
    Pediatr Res; 2010 Mar 23; 67(3):304-8. PubMed ID: 19952864
    [Abstract] [Full Text] [Related]

  • 20. 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]

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