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Journal Abstract Search

402 related items for PubMed ID: 2103700

  • 1.
    ; . PubMed ID:
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  • 2. Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
    Li Y, Ptolemy AS, Harmonay L, Kellogg M, Berry GT.
    Mol Genet Metab; 2011 Jan; 102(1):33-40. PubMed ID: 20863731
    [Abstract] [Full Text] [Related]

  • 3. Cataracts related to enzymes of galactose metabolism.
    Schoon DV.
    Metab Pediatr Ophthalmol; 1981 Jan; 5(3-4):219-23. PubMed ID: 6273670
    [No Abstract] [Full Text] [Related]

  • 4. Presenile cataract formation and decreased activity of galactosemic enzymes.
    Skalka HW, Prchal JT.
    Arch Ophthalmol; 1980 Feb; 98(2):269-73. PubMed ID: 7352874
    [Abstract] [Full Text] [Related]

  • 5. Idiopathic presenile cataract formation and galactosaemia.
    Stevens RE, Datiles MB, Srivastava SK, Ansari NH, Maumenee AE, Stark WJ.
    Br J Ophthalmol; 1989 Jan; 73(1):48-51. PubMed ID: 2537652
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  • 8. Galactosemic enzyme levels in presenile cataracts.
    Maraini G, Leardi E, Nuzzi G.
    Graefes Arch Clin Exp Ophthalmol; 1982 Jan; 219(2):100-1. PubMed ID: 6292054
    [Abstract] [Full Text] [Related]

  • 9. [Galactokinase deficiency].
    Colin J, Voyer M, Thomas D, Charlas J.
    Ann Pediatr (Paris); 1976 May 02; 23(5):371-7. PubMed ID: 16104211
    [No Abstract] [Full Text] [Related]

  • 10. [Galactosemia].
    Grodzka Z, Zbieg-Sendecka E.
    Probl Med Wieku Rozwoj; 1979 May 02; 8():70-6. PubMed ID: 263529
    [Abstract] [Full Text] [Related]

  • 11. Partial galactose disorders in families with premature cataracts.
    Winder AF, Claringbold LJ, Jones RB, Jay BS, Rice NS, Kissun RD, Menzies IS, Mount JN.
    Arch Dis Child; 1983 May 02; 58(5):362-6. PubMed ID: 6859916
    [Abstract] [Full Text] [Related]

  • 12. Galactose and cataract.
    Stambolian D.
    Surv Ophthalmol; 1988 May 02; 32(5):333-49. PubMed ID: 3043741
    [Abstract] [Full Text] [Related]

  • 13. Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
    Schulpis KH, Thodi G, Chatzidaki M, Iakovou K, Molou E, Dotsikas Y, Loukas YL.
    J Pediatr Endocrinol Metab; 2017 Oct 26; 30(10):1119-1120. PubMed ID: 28902631
    [No Abstract] [Full Text] [Related]

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  • 17. Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism.
    Winder AF, Fielder AR, Mount JN, Menzies JS.
    Clin Genet; 1985 Sep 26; 28(3):199-206. PubMed ID: 4064358
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  • 18. Hereditary galactosemia.
    Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT.
    Metabolism; 2018 Jun 26; 83():188-196. PubMed ID: 29409891
    [Abstract] [Full Text] [Related]

  • 19. GALT Deficiency Galactosemia.
    Anderson S.
    MCN Am J Matern Child Nurs; 2018 Jun 26; 43(1):44-51. PubMed ID: 29215423
    [Abstract] [Full Text] [Related]

  • 20. [Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract].
    Heyne K, Shin YS, Schwinger E.
    Monatsschr Kinderheilkd; 1988 Dec 26; 136(12):828-30. PubMed ID: 2853298
    [Abstract] [Full Text] [Related]

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