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Journal Abstract Search

147 related items for PubMed ID: 9590053

  • 21. Hereditary periodic fever.
    Kelley RI, Takada I.
    N Engl J Med; 2002 May 02; 346(18):1415-6; author reply 1415-6. PubMed ID: 11987326
    [No Abstract] [Full Text] [Related]

  • 22. Mevalonic aciduria cured by bone marrow transplantation.
    Arkwright PD, Abinun M, Cant AJ.
    N Engl J Med; 2007 Sep 27; 357(13):1350. PubMed ID: 17898110
    [No Abstract] [Full Text] [Related]

  • 23. Mevalonic aciduria.
    Kozich V, Gibson KM, Zeman J, Nĕmecek J, Hoffman GF, Pehal F, Hyánek J, Grosmanová A, Verner P.
    J Inherit Metab Dis; 1991 Sep 27; 14(2):265-6. PubMed ID: 1653382
    [No Abstract] [Full Text] [Related]

  • 24. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
    Houten SM, Frenkel J, Kuis W, Wanders RJ, Poll-The BT, Waterham HR.
    J Inherit Metab Dis; 2000 Jun 27; 23(4):367-70. PubMed ID: 10896296
    [No Abstract] [Full Text] [Related]

  • 25. Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.
    Gibson KM, Lohr JL, Broock RL, Hoffmann G, Nyhan WL, Sweetman L, Brandt IK, Wappner RS, Bader PI.
    Enzyme; 1989 Jun 27; 41(1):47-55. PubMed ID: 2543551
    [Abstract] [Full Text] [Related]

  • 26. [D-2-hydroxyglutaric aciduria].
    Takayanagi M, Ogawa A.
    Ryoikibetsu Shokogun Shirizu; 1998 Jun 27; (18 Pt 1):389-91. PubMed ID: 9590078
    [No Abstract] [Full Text] [Related]

  • 27. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.
    Hoffmann GF, Brendel SU, Scharfschwerdt SR, Shin YS, Speidel IM, Gibson KM.
    J Inherit Metab Dis; 1992 Jun 27; 15(5):738-46. PubMed ID: 1331607
    [Abstract] [Full Text] [Related]

  • 28. [Identification of the gene for hyper-IgD syndrome: a model of modern genetics].
    Drenth JP, Waterham HR, Kuis W, Houten SM, Frenkel J, Wanders RJ, Poll-The BT, van der Meer JW.
    Ned Tijdschr Geneeskd; 2000 Apr 22; 144(17):782-5. PubMed ID: 10800545
    [Abstract] [Full Text] [Related]

  • 29.
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  • 30. A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis.
    de Klerk JB, Duran M, Dorland L, Brouwers HA, Bruinvis L, Ketting D.
    J Inherit Metab Dis; 1988 Apr 22; 11 Suppl 2():233-6. PubMed ID: 3141709
    [No Abstract] [Full Text] [Related]

  • 31. [Methylglutaconic aciduria (normal hydratase, unspecified)].
    Yoshida I.
    Ryoikibetsu Shokogun Shirizu; 1998 Apr 22; (18 Pt 1):295-8. PubMed ID: 9590051
    [No Abstract] [Full Text] [Related]

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  • 34. Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
    Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR.
    Hum Mol Genet; 1999 Aug 22; 8(8):1523-8. PubMed ID: 10401001
    [Abstract] [Full Text] [Related]

  • 35.
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  • 36. [Inborn errors of catecholamine metabolism].
    Suzuki T.
    Ryoikibetsu Shokogun Shirizu; 1998 Aug 22; (19 Pt 2):640-4. PubMed ID: 9645154
    [No Abstract] [Full Text] [Related]

  • 37. Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.
    Di Rocco M, Caruso U, Waterham HR, Picco P, Loy A, Wanders RJ.
    J Inherit Metab Dis; 2001 Jun 22; 24(3):411-2. PubMed ID: 11486909
    [No Abstract] [Full Text] [Related]

  • 38. [Glutaric aciduria type 2].
    Yamaguchi S.
    Ryoikibetsu Shokogun Shirizu; 1998 Jun 22; (18 Pt 1):362-5. PubMed ID: 9590070
    [No Abstract] [Full Text] [Related]

  • 39. [N5-methyltetrahydrofolate: homocysteine methyltransferase deficiency].
    Yoshino M.
    Ryoikibetsu Shokogun Shirizu; 1998 Jun 22; (18 Pt 1):267-8. PubMed ID: 9590043
    [No Abstract] [Full Text] [Related]

  • 40. [Pyruvate decarboxylase deficiency].
    Saijo T, Kuroda Y.
    Ryoikibetsu Shokogun Shirizu; 1998 Jun 22; (18 Pt 1):338-40. PubMed ID: 9590062
    [No Abstract] [Full Text] [Related]

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