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Journal Abstract Search

175 related items for PubMed ID: 104554

  • 1. Clinical and biochemical pathophysiology of ataxia in the sphingolipidoses.
    Philippart M.
    Adv Neurol; 1978; 21():131-49. PubMed ID: 104554
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  • 2. The biochemistry of sphingolipid storage diseases.
    Sandhoff K.
    Angew Chem Int Ed Engl; 1977 May; 16(5):273-85. PubMed ID: 406814
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  • 9. Genetic disorders of lysosomes.
    Hirschhorn R, Weissmann G.
    Prog Med Genet; 1976 May; 1():49-101. PubMed ID: 180565
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  • 11. Mass spectrometry in the study of lysosomal storage disorders.
    Meikle PJ, Fuller M, Hopwood JJ.
    Cell Mol Biol (Noisy-le-grand); 2003 Jul; 49(5):769-77. PubMed ID: 14528914
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  • 12. Intrafamilial variability in lysosomal storage diseases.
    Zlotogora J.
    Am J Med Genet; 1987 Jul; 27(3):633-8. PubMed ID: 3115101
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  • 14. Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease.
    Wenger DA.
    APMIS Suppl; 1993 Jul; 40():81-7. PubMed ID: 8311994
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  • 15. [Pathobiochemical aspects of lysosomal enzymes with special reference to lysosomal storage diseases (author's transl)].
    Kresse H.
    Wien Klin Wochenschr; 1978 May 12; 90(10):325-32. PubMed ID: 418578
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  • 16. [Prenatal diagnosis of incurable familial metabolic diseases. Prenatal diagnosis of disorders of lipid metabolism].
    Harzer K.
    Med Welt; 1979 May 12; 30(48):1810-6. PubMed ID: 42836
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  • 17. The cerebral lipidoses.
    Malone MJ.
    Pediatr Clin North Am; 1976 May 12; 23(2):303-26. PubMed ID: 818606
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  • 18. Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention.
    Aerts JM, Hollak C, Boot R, Groener A.
    Philos Trans R Soc Lond B Biol Sci; 2003 May 29; 358(1433):905-14. PubMed ID: 12803924
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  • 19. [Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses].
    Dreyfus JC, Poenaru L.
    Arch Fr Pediatr; 1975 May 29; 32(6):503-14. PubMed ID: 810108
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  • 20. Concentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseases.
    Inui K, Wenger DA.
    J Clin Invest; 1983 Nov 29; 72(5):1622-8. PubMed ID: 6415115
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