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Journal Abstract Search

139 related items for PubMed ID: 3949470

  • 1. Cataracts in patients heterozygous for galactokinase deficiency.
    Stambolian D, Scarpino-Myers V, Eagle RC, Hodes B, Harris H.
    Invest Ophthalmol Vis Sci; 1986 Mar; 27(3):429-33. PubMed ID: 3949470
    [Abstract] [Full Text] [Related]

  • 2.
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  • 3. Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies.
    Benson PF, Brown SP, Cree J, Fensom AH, Grant AR.
    Birth Defects Orig Artic Ser; 1976 Mar; 12(3):305-12. PubMed ID: 182297
    [Abstract] [Full Text] [Related]

  • 4. Early cataract formation due to galactokinase deficiency: impact of newborn screening.
    Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lücke T, Das AM.
    Arch Med Res; 2011 Oct; 42(7):608-12. PubMed ID: 22154682
    [Abstract] [Full Text] [Related]

  • 5. Macular deposits in galactokinase deficiency.
    Hodes BL, Schietroma JM, Lane SS, Sadeghi J, Cunningham D, Stambolian D.
    Metab Pediatr Syst Ophthalmol (1985); 1985 Oct; 8(2-3):39-42. PubMed ID: 3870945
    [Abstract] [Full Text] [Related]

  • 6. [Measurement of the erythrocyte galactokinase activity in patients with presenile and senile idiopathic cataract. Preliminary study].
    Simonelli F, Frunzio S, Rinaldi M, Balestrieri P, Giovane A, Cotticelli L, Rinaldi E.
    Boll Soc Ital Biol Sper; 1990 Sep; 66(9):887-92. PubMed ID: 2073390
    [Abstract] [Full Text] [Related]

  • 7. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
    Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ.
    Nat Genet; 1995 Jul; 10(3):307-12. PubMed ID: 7670469
    [Abstract] [Full Text] [Related]

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

  • 9. [Identification of inborn errors of galactose metabolism in patients with cataracts].
    Vaca-Pacheco G, Medina C, García-Cruz D, Sánchez-Corona J, Chávez-Anaya E, Jaimes C, Hernández-Córdova A.
    Arch Invest Med (Mex); 1990 Jul; 21(2):127-32. PubMed ID: 2103700
    [Abstract] [Full Text] [Related]

  • 10. Galactokinase deficiency as a cause of cataracts.
    Beutler E, Matsumoto F, Kuhl W, Krill A, Levy N, Sparkes R, Degnan M.
    N Engl J Med; 1973 Jun 07; 288(23):1203-6. PubMed ID: 4700553
    [No Abstract] [Full Text] [Related]

  • 11. Presenile cataract formation and decreased activity of galactosemic enzymes.
    Skalka HW, Prchal JT.
    Arch Ophthalmol; 1980 Feb 07; 98(2):269-73. PubMed ID: 7352874
    [Abstract] [Full Text] [Related]

  • 12. [The blood galactokinase activity in Chinese with reference to congenital cataract].
    Xu GT.
    Zhonghua Yan Ke Za Zhi; 1989 Mar 07; 25(2):100-3. PubMed ID: 2507251
    [Abstract] [Full Text] [Related]

  • 13. Galactokinase activity in patients with idiopathic cataracts.
    Elman MJ, Miller MT, Matalon R.
    Ophthalmology; 1986 Feb 07; 93(2):210-5. PubMed ID: 3951827
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 28(3):199-206. PubMed ID: 4064358
    [Abstract] [Full Text] [Related]

  • 15. [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]

  • 16. Idiopathic presenile cataract formation and galactosaemia.
    Stevens RE, Datiles MB, Srivastava SK, Ansari NH, Maumenee AE, Stark WJ.
    Br J Ophthalmol; 1989 Jan 02; 73(1):48-51. PubMed ID: 2537652
    [Abstract] [Full Text] [Related]

  • 17. Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation.
    Karas-Kuzelicki N, Pfeifer V, Lukac-Bajalo J.
    Clin Biochem; 2008 Jul 02; 41(10-11):869-74. PubMed ID: 18454942
    [Abstract] [Full Text] [Related]

  • 18. Strain difference in galactokinase level and susceptibility to the teratogenic effect of dietary galactose in mice: I. Teratogenic and embryopathic effect.
    Shih LY, Kuerer HM, Chen TH, Desposito F.
    Teratology; 1988 Aug 02; 38(2):175-9. PubMed ID: 3175951
    [Abstract] [Full Text] [Related]

  • 19. Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
    Park HD, Bang YL, Park KU, Kim JQ, Jeong BH, Kim YS, Song YH, Song J.
    Mol Genet Metab; 2007 Jul 02; 91(3):234-8. PubMed ID: 17517531
    [Abstract] [Full Text] [Related]

  • 20. [A case of galactosemia caused by galactokinase deficiency].
    Bolgiani MP, Gallenca M, Barocelli PC.
    Pediatr Med Chir; 1984 Jul 02; 6(2):333-5. PubMed ID: 6531256
    [Abstract] [Full Text] [Related]

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