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Journal Abstract Search

177 related items for PubMed ID: 20443061

  • 21. 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]

  • 22. 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]

  • 23. 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]

  • 24. 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 Jun; 62(1):19-23. PubMed ID: 32253862
    [Abstract] [Full Text] [Related]

  • 25. Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress.
    Schmidt SP, Corydon TJ, Pedersen CB, Bross P, Gregersen N.
    Mol Genet Metab; 2010 Jun; 100(2):155-62. PubMed ID: 20371198
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.
    Amendt BA, Rhead WJ.
    J Clin Invest; 1986 Jul; 78(1):205-13. PubMed ID: 3722376
    [Abstract] [Full Text] [Related]

  • 28. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.
    van Maldegem BT, Waterham HR, Duran M, van der Vlies M, van Woerden CS, Bobu LL, Wanders RJ, Wijburg FA.
    J Inherit Metab Dis; 2005 Jul; 28(4):557-62. PubMed ID: 15902559
    [Abstract] [Full Text] [Related]

  • 29. 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; 54(2):219-23. PubMed ID: 12736383
    [Abstract] [Full Text] [Related]

  • 30. Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I.
    Rodrigues MDN, Seminotti B, Zanatta Â, de Mello Gonçalves A, Bellaver B, Amaral AU, Quincozes-Santos A, Goodman SI, Woontner M, Souza DO, Wajner M.
    Mol Neurobiol; 2017 Aug; 54(6):4795-4805. PubMed ID: 27510504
    [Abstract] [Full Text] [Related]

  • 31. ETHE1 mutations are specific to ethylmalonic encephalopathy.
    Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M.
    J Med Genet; 2006 Apr; 43(4):340-6. PubMed ID: 16183799
    [Abstract] [Full Text] [Related]

  • 32. 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 Apr; 25(7-8):795-7. PubMed ID: 23155713
    [Abstract] [Full Text] [Related]

  • 33. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
    Sewell AC, Herwig J, Böhles H, Rinaldo P, Bhala A, Hale DE.
    Eur J Pediatr; 1993 Nov; 152(11):922-4. PubMed ID: 8276024
    [Abstract] [Full Text] [Related]

  • 34. 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; 17(1):71-80. PubMed ID: 16409126
    [Abstract] [Full Text] [Related]

  • 35. Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.
    Harpey JP, Charpentier C, Coudé M, Divry P, Paturneau-Jouas M.
    J Pediatr; 1987 Jun; 110(6):881-4. PubMed ID: 3585604
    [No Abstract] [Full Text] [Related]

  • 36. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
    Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F.
    J Pediatr; 1994 Jan; 124(1):79-86. PubMed ID: 8283379
    [Abstract] [Full Text] [Related]

  • 37. Mitochondrial fatty acid oxidation defects--remaining challenges.
    Gregersen N, Andresen BS, Pedersen CB, Olsen RK, Corydon TJ, Bross P.
    J Inherit Metab Dis; 2008 Oct; 31(5):643-57. PubMed ID: 18836889
    [Abstract] [Full Text] [Related]

  • 38. Mitochondrial proteomics--a tool for the study of metabolic disorders.
    Gregersen N, Hansen J, Palmfeldt J.
    J Inherit Metab Dis; 2012 Jul; 35(4):715-26. PubMed ID: 22526845
    [Abstract] [Full Text] [Related]

  • 39. Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.
    Nowaczyk MJ, Lehotay DC, Platt BA, Fisher L, Tan R, Phillips H, Clarke JT.
    Metabolism; 1998 Jul; 47(7):836-9. PubMed ID: 9667231
    [Abstract] [Full Text] [Related]

  • 40. Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
    Nochi Z, Olsen RKJ, Gregersen N.
    J Inherit Metab Dis; 2017 Sep; 40(5):641-655. PubMed ID: 28516284
    [Abstract] [Full Text] [Related]

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