These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

148 related items for PubMed ID: 14595061

  • 21. 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; 91(4):480-2. PubMed ID: 12061367
    [Abstract] [Full Text] [Related]

  • 22. Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
    Holub M, Bodamer OA, Item C, Mühl A, Pollak A, Stöckler-Ipsiroglu S.
    Acta Paediatr; 2005 Jan; 94(1):48-52. PubMed ID: 15858960
    [Abstract] [Full Text] [Related]

  • 23. Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.
    Kurian MA, Hartley L, Zolkipli Z, Little MA, Costigan D, Naughten ER, Olpin S, Muntoni F, King MD.
    Neuropediatrics; 2004 Oct; 35(5):312-6. PubMed ID: 15534767
    [Abstract] [Full Text] [Related]

  • 24. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
    Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.
    Pediatrics; 2001 Jul; 108(1):E19. PubMed ID: 11433098
    [Abstract] [Full Text] [Related]

  • 25.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 26.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 27. Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.
    Beattie SG, Goetzman E, Conlon T, Germain S, Walter G, Campbell-Thompson M, Matern D, Vockley J, Flotte TR.
    Hum Gene Ther; 2008 Jun; 19(6):579-88. PubMed ID: 18500942
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Structural organization of the human short-chain acyl-CoA dehydrogenase gene.
    Corydon MJ, Andresen BS, Bross P, Kjeldsen M, Andreasen PH, Eiberg H, Kølvraa S, Gregersen N.
    Mamm Genome; 1997 Dec; 8(12):922-6. PubMed ID: 9383286
    [Abstract] [Full Text] [Related]

  • 30. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
    Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS.
    Hum Genet; 2006 Feb; 118(6):680-90. PubMed ID: 16317551
    [Abstract] [Full Text] [Related]

  • 31. Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism.
    Qureshi IA, Leblanc D, Cyr D, Giguère R, Mitchell G.
    Biochem Biophys Res Commun; 1993 Mar 15; 191(2):744-9. PubMed ID: 8461026
    [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 Mar 15; 25(7-8):795-7. PubMed ID: 23155713
    [Abstract] [Full Text] [Related]

  • 33. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
    Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW.
    N Engl J Med; 1999 Jun 03; 340(22):1723-31. PubMed ID: 10352164
    [Abstract] [Full Text] [Related]

  • 34. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
    Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D.
    Genet Med; 2007 Feb 03; 9(2):108-16. PubMed ID: 17304052
    [Abstract] [Full Text] [Related]

  • 35. Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme.
    Nguyen TV, Riggs C, Babovic-Vuksanovic D, Kim YS, Carpenter JF, Burghardt TP, Gregersen N, Vockley J.
    Biochemistry; 2002 Sep 17; 41(37):11126-33. PubMed ID: 12220177
    [Abstract] [Full Text] [Related]

  • 36. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.
    Corydon MJ, Gregersen N, Lehnert W, Ribes A, Rinaldo P, Kmoch S, Christensen E, Kristensen TJ, Andresen BS, Bross P, Winter V, Martinez G, Neve S, Jensen TG, Bolund L, Kølvraa S.
    Pediatr Res; 1996 Jun 17; 39(6):1059-66. PubMed ID: 8725270
    [Abstract] [Full Text] [Related]

  • 37. 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 17; 85(1):7-11. PubMed ID: 15862275
    [Abstract] [Full Text] [Related]

  • 38. Molecular and functional characterisation of mild MCAD deficiency.
    Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann GF, Penzien J, Ruiter JP, Wanders RJ, Mayatepek E.
    Hum Genet; 2001 May 17; 108(5):404-8. PubMed ID: 11409868
    [Abstract] [Full Text] [Related]

  • 39. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
    Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS.
    Pediatr Res; 2006 Sep 17; 60(3):315-20. PubMed ID: 16857760
    [Abstract] [Full Text] [Related]

  • 40. 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 17; 42(1):13-7. PubMed ID: 21500142
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 8.