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Journal Abstract Search

180 related items for PubMed ID: 848490

  • 1. Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines.
    Champion MJ, Shows TB.
    Am J Hum Genet; 1977 Mar; 29(2):149-63. PubMed ID: 848490
    [Abstract] [Full Text] [Related]

  • 2. The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
    Honey NK, Miller AL, Shows TB.
    Am J Med Genet; 1981 Mar; 9(3):239-53. PubMed ID: 7282783
    [Abstract] [Full Text] [Related]

  • 3. Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses.
    Swallow DM, O'Brien JS, Hoogeveen AT, Buck DW.
    Ann Hum Genet; 1981 Feb; 45(1):29-37. PubMed ID: 6459053
    [Abstract] [Full Text] [Related]

  • 4. Impaired phosphorylation of lysosomal enzymes in fibroblasts of patients with mucolipidosis III.
    Hasilik A, Waheed A, Cantz M, von Figura K.
    Eur J Biochem; 1982 Feb; 122(1):119-23. PubMed ID: 6120834
    [Abstract] [Full Text] [Related]

  • 5. Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations.
    Ben-Yoseph Y, Mitchell DA, Yager RM, Wei JT, Chen TH, Shih LY.
    Am J Hum Genet; 1992 Jan; 50(1):137-44. PubMed ID: 1309624
    [Abstract] [Full Text] [Related]

  • 6. Lysosomal enzymes in human lymphoblastoid lines: unusual characteristics of RAJI and DAUDI.
    Swallow DM, Gardiner SE, Harris H, Arthur E, Steel CM, Evans HJ.
    Ann Hum Genet; 1977 Jul; 41(1):9-16. PubMed ID: 200169
    [Abstract] [Full Text] [Related]

  • 7. Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III.
    Andria G, Sly WS.
    Pediatr Res; 1981 Jan; 15(1):70-3. PubMed ID: 7208171
    [Abstract] [Full Text] [Related]

  • 8. Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants.
    Shows TB, Mueller OT, Honey NK, Wright CE, Miller AL.
    Am J Med Genet; 1982 Jul; 12(3):343-53. PubMed ID: 6287841
    [Abstract] [Full Text] [Related]

  • 9. Effect of the co-existence of galactosyl and phosphomannosyl residues on beta-hexosaminidase on the processing and transport of the enzyme in mucolipidosis I fibroblasts.
    Vladutiu GD.
    Biochim Biophys Acta; 1983 Nov 08; 760(3):363-70. PubMed ID: 6226317
    [Abstract] [Full Text] [Related]

  • 10. Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III.
    Kress BC, Miller AL.
    Biochem J; 1979 Feb 01; 177(2):409-15. PubMed ID: 35150
    [Abstract] [Full Text] [Related]

  • 11. Molecular forms of beta-hexosaminidase and alpha-mannosidase in cell cultures from patients with mucolipidosis types II and III.
    Hultberg B.
    Clin Chim Acta; 1980 Apr 25; 103(2):159-63. PubMed ID: 7371194
    [Abstract] [Full Text] [Related]

  • 12. Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids.
    Champion MJ, Shows TB.
    Nature; 1977 Nov 03; 270(5632):64-6. PubMed ID: 562989
    [No Abstract] [Full Text] [Related]

  • 13. Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis.
    Mueller OT, Honey NK, Little LE, Miller AL, Shows TB.
    J Clin Invest; 1983 Sep 03; 72(3):1016-23. PubMed ID: 6309902
    [Abstract] [Full Text] [Related]

  • 14. Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts.
    d'Azzo A, Halley DJ, Hoogeveen A, Galjaard H.
    Am J Hum Genet; 1980 Jul 03; 32(4):519-28. PubMed ID: 6772024
    [Abstract] [Full Text] [Related]

  • 15. Heterogeneity in mucolipidosis II (I-cell disease).
    Okada S, Kato T, Oshima T, Yutaka T, Yabuuchi H.
    Clin Genet; 1983 Feb 03; 23(2):155-9. PubMed ID: 6839528
    [Abstract] [Full Text] [Related]

  • 16. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.
    Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, Hermans-Borgmeyer I, Röchert AK, Pohl S, Lübke T, Michalski JC, Käkelä R, Walkley SU, Braulke T.
    Brain; 2012 Sep 03; 135(Pt 9):2661-75. PubMed ID: 22961545
    [Abstract] [Full Text] [Related]

  • 17. Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts.
    Jansen SM, Groener JE, Poorthuis BJ.
    Biochim Biophys Acta; 1999 Jan 04; 1436(3):363-9. PubMed ID: 9989267
    [Abstract] [Full Text] [Related]

  • 18. Properties of N-acetyl-beta-D-hexosaminidase from isolated normal and I-cell lysosomes.
    Miller AL, Kress BC, Stein R, Kinnon C, Kern H, Schneider JA, Harms E.
    J Biol Chem; 1981 Sep 10; 256(17):9352-62. PubMed ID: 7263719
    [Abstract] [Full Text] [Related]

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  • 20. Affinity chromatography of lysosomal enzymes in plasma, urine and fibroblasts of patients with mucolipidosis (ML) II and III.
    den Tandt WR.
    Clin Chim Acta; 1980 Mar 28; 102(2-3):199-205. PubMed ID: 6245813
    [No Abstract] [Full Text] [Related]

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