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Journal Abstract Search

255 related items for PubMed ID: 2283277

  • 1. The biochemical diagnosis of lysosomal storage diseases--a review of five years experience.
    Wallace IJ, McCusker CA, McCormick D.
    Ir J Med Sci; 1990 Jul; 159(7):203-9. PubMed ID: 2283277
    [Abstract] [Full Text] [Related]

  • 2. Lysosomal enzymes in medium from cultured skin fibroblasts from normal individuals and patients with lysosomal diseases.
    Hultberg B, Sjöblad S.
    Clin Chim Acta; 1977 Oct 01; 80(1):79-86. PubMed ID: 409577
    [Abstract] [Full Text] [Related]

  • 3. Enzymological diagnosis of a group of lysosomal storage diseases. Review of 5-year experience of 1600 patient-sample referrals.
    Pollard AC, Carey WF, Nelson PV, Poulos A, Hill GN.
    Med J Aust; 1980 Nov 15; 2(10):549-53. PubMed ID: 6780772
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  • 4. Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period.
    Hopwood JJ, Muller V, Harrison JR, Carey WF, Elliott H, Robertson EF, Pollard AC.
    Med J Aust; 1982 Mar 20; 1(6):257-60. PubMed ID: 6806584
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  • 8. [Determination of lysosomal enzymes in the diagnosis of storage diseases].
    Czartoryska B, Górska D, Abramowicz T, Zaremba J.
    Pediatr Pol; 1979 Jan 20; 54(1):1-9. PubMed ID: 424253
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  • 10. [Hereditary lysosomal diseases. I. Initial results of a diagnostic program in Mexico].
    Zetina ME, González-Noriega A.
    Rev Invest Clin; 1989 Jan 20; 41(4):319-26. PubMed ID: 2517151
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  • 12. [Hereditary lysosomal storage diseases (author's transl)].
    Rutgers C, Gruys E.
    Tijdschr Diergeneeskd; 1979 Nov 15; 104(22):865-76. PubMed ID: 390763
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  • 13. Deficiency of lysosomal hydrolases in apparently healthy individuals.
    Zlotogora J, Bach G.
    Am J Med Genet; 1983 Jan 15; 14(1):73-80. PubMed ID: 6131608
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  • 15. Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts.
    Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.
    J Biol Chem; 2011 Oct 07; 286(40):35283-90. PubMed ID: 21846724
    [Abstract] [Full Text] [Related]

  • 16. [Lysosomal storage diseases: possibilities of the clinical-biochemical diagnostics (author's transl)].
    Wiesmann UN, Spycher MA, Gitzelmann R.
    Verh Dtsch Ges Pathol; 1976 Oct 07; ():106-10. PubMed ID: 828813
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  • 17. Culture conditions found to minimize false positive diagnosis of lysosomal storage disorders.
    Arnon J, Ornoy A, Bach G.
    In Vitro Cell Dev Biol; 1988 Dec 07; 24(12):1159-64. PubMed ID: 3209585
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  • 18. Ultrastructure of skin biopsy specimens in lysosomal storage diseases: common sources of error in diagnosis.
    Sipe JC, O'Brien JS.
    Clin Genet; 1979 Feb 07; 15(2):118-25. PubMed ID: 761412
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  • 19. The lysosomal storage diseases.
    O'Brien JF.
    Mayo Clin Proc; 1982 Mar 07; 57(3):192-7. PubMed ID: 7062784
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  • 20. Four patients with a new lysosomal storage disorder (Salla disease).
    Aula P, Raivio K, Autio S, Thoden CE, Rapola J, Koskela SL, Yamashina I.
    Monogr Hum Genet; 1978 Mar 07; 10():16-22. PubMed ID: 723890
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