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Journal Abstract Search

191 related items for PubMed ID: 23622387

  • 1. Disorders of pyruvate metabolism.
    De Meirleir L.
    Handb Clin Neurol; 2013; 113():1667-73. PubMed ID: 23622387
    [Abstract] [Full Text] [Related]

  • 2. Defects of pyruvate metabolism and the Krebs cycle.
    De Meirleir L.
    J Child Neurol; 2002 Dec; 17 Suppl 3():3S26-33; discussion 3S33-4. PubMed ID: 12597053
    [Abstract] [Full Text] [Related]

  • 3. A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.
    Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N.
    Mol Genet Metab; 2006 Feb; 87(2):175-7. PubMed ID: 16325442
    [Abstract] [Full Text] [Related]

  • 4. [Disorders of pyruvate metabolism and TCA cycle].
    Kuroda Y.
    Ryoikibetsu Shokogun Shirizu; 2001 Feb; (36):95-9. PubMed ID: 11596462
    [No Abstract] [Full Text] [Related]

  • 5. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
    Marin-Valencia I, Roe CR, Pascual JM.
    Mol Genet Metab; 2010 Sep; 101(1):9-17. PubMed ID: 20598931
    [Abstract] [Full Text] [Related]

  • 6. [Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene].
    Blanco-Barca O, Gomez-Lado C, Rodrigo-Saez E, Curros-Novos C, Briones-Godino P, Eiris-Punal J, Castro-Gago M.
    Rev Neurol; 2010 Sep; 43(6):341-5. PubMed ID: 16981164
    [Abstract] [Full Text] [Related]

  • 7. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
    Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA.
    Neuropediatrics; 2008 Feb; 39(1):20-3. PubMed ID: 18504677
    [Abstract] [Full Text] [Related]

  • 8. Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
    Sharma R, Sharrard MJ, Connolly DJ, Mordekar SR.
    Dev Med Child Neurol; 2012 May; 54(5):469-71. PubMed ID: 21895644
    [Abstract] [Full Text] [Related]

  • 9. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
    Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA, Ficicioglu C, Hertecant J, Patel MS, Kerr DS.
    Mol Genet Metab; 2008 Apr; 93(4):371-80. PubMed ID: 18164639
    [Abstract] [Full Text] [Related]

  • 10. Disorders of pyruvate metabolism and the tricarboxylic acid cycle.
    Pithukpakorn M.
    Mol Genet Metab; 2005 Aug; 85(4):243-6. PubMed ID: 16156009
    [No Abstract] [Full Text] [Related]

  • 11. Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
    Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, Schiaffino C, Caruso U, Piemonte F, Bruno C.
    Dev Med Child Neurol; 2012 May; 54(5):472-6. PubMed ID: 22142326
    [Abstract] [Full Text] [Related]

  • 12. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
    DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.
    Mol Genet Metab; 2012 Nov; 107(3):394-402. PubMed ID: 23021068
    [Abstract] [Full Text] [Related]

  • 13. Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.
    Koga Y, Povalko N, Katayama K, Kakimoto N, Matsuishi T, Naito E, Tanaka M.
    Brain Dev; 2012 Feb; 34(2):87-91. PubMed ID: 21454027
    [Abstract] [Full Text] [Related]

  • 14. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.
    Wexler ID, Kerr DS, Du Y, Kaung MM, Stephenson W, Lusk MM, Wappner RS, Higgins JJ.
    Pediatr Res; 1998 May; 43(5):579-84. PubMed ID: 9585002
    [Abstract] [Full Text] [Related]

  • 15. A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
    Dey R, Mine M, Desguerre I, Slama A, Van Den Berghe L, Brivet M, Aral B, Marsac C.
    Ann Neurol; 2003 Feb; 53(2):273-7. PubMed ID: 12557299
    [Abstract] [Full Text] [Related]

  • 16. Congenital lactic acidosis associated with pyruvate carboxylase deficiency.
    Sagy M, Barzilay Z, Barash V, Oren M, Vardi P, Cohen BE, Gutman A.
    Isr J Med Sci; 1981 Dec; 17(12):1159-63. PubMed ID: 6799424
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