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Journal Abstract Search

178 related items for PubMed ID: 6897695

  • 21.
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  • 22. [Isovaleric acidemia: identical biochemical picture in 3 patients with variable clinical manifestations].
    Bakkeren JA, Sengers RC, Ruitenbeek W, Trijbels JM, Houben ML, Van der Zeè SP.
    Tijdschr Kindergeneeskd; 1982 Oct; 50(5):153-9. PubMed ID: 7157337
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  • 23.
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  • 24. Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.
    Ikeda Y, Keese SM, Tanaka K.
    Proc Natl Acad Sci U S A; 1985 Oct; 82(20):7081-5. PubMed ID: 3863140
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  • 25.
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  • 26. [Hyperammonemia in childhood. II. Enzymopathies not related to the urea cycle].
    Kopieczna-Grzebieniak E, Toborek M, Jakubowska D, Tarnawski R.
    Pediatr Pol; 1988 Feb; 63(2):129-36. PubMed ID: 2900490
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  • 27.
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  • 29. [Neonatal form of isovaleric acidemia. Apropos of a new case].
    Beauvais P, Peter MO, Barbier B.
    Arch Fr Pediatr; 1985 Feb; 42(7):531-3. PubMed ID: 4083972
    [Abstract] [Full Text] [Related]

  • 30. Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia.
    Millington DS, Roe CR, Maltby DA, Inoue F.
    J Pediatr; 1987 Jan; 110(1):56-60. PubMed ID: 3794887
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  • 31.
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  • 32. The pancytopenia of isovaleric acidemia.
    Kelleher JF, Yudkoff M, Hutchinson R, August CS, Cohn RM.
    Pediatrics; 1980 May; 65(5):1023-7. PubMed ID: 7367115
    [Abstract] [Full Text] [Related]

  • 33. The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors.
    Vockley J, Nagao M, Parimoo B, Tanaka K.
    J Biol Chem; 1992 Feb 05; 267(4):2494-501. PubMed ID: 1310317
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  • 34.
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  • 35. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
    Vockley J, Parimoo B, Tanaka K.
    Am J Hum Genet; 1991 Jul 05; 49(1):147-57. PubMed ID: 2063866
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  • 36.
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  • 37. Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy.
    Fries MH, Rinaldo P, Schmidt-Sommerfeld E, Jurecki E, Packman S.
    J Pediatr; 1996 Sep 05; 129(3):449-52. PubMed ID: 8804338
    [Abstract] [Full Text] [Related]

  • 38. [Phenotypic expression variation of isovaleric acidemia in Argentinian patients. A long term follow-up].
    Dodelson de Kremer R, Depetris de Boldini C, Paschini de Capra A, Hliba E, Corbella L.
    Medicina (B Aires); 1992 Sep 05; 52(2):131-40. PubMed ID: 1308904
    [Abstract] [Full Text] [Related]

  • 39. Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
    Dubiel B, Dabrowski C, Wetts R, Tanaka K.
    J Clin Invest; 1983 Nov 05; 72(5):1543-52. PubMed ID: 6630517
    [Abstract] [Full Text] [Related]

  • 40. A new case of prenatal diagnosis of isovaleric acidaemia.
    Dumoulin R, Divry P, Mandon G, Mathieu M.
    Prenat Diagn; 1991 Dec 05; 11(12):921-2. PubMed ID: 1805197
    [No Abstract] [Full Text] [Related]

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