Abstract
Most lysosomal diseases are fatal, often after a protracted downhill course that is painfully apparent to patient, parents and physician. This interim report relates our attempts to treat such patients; and to find ultrastructural and biochemical markers in fibroblast cultures for the study of pathophysiology and treatment of lysosomal disease.
Keywords
- Gauche Disease
- Glycogen Storage Disease
- Fibroblast Culture
- Metachromatic Leukodystrophy
- Needle Biopsy Specimen
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References
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Hug, G., Schubert, W.K., Soukup, S. (1972). Lysosomal Diseases and Fibroblast Cultures: Biochemical and Electron Microscopic Observations. In: Volk, B.W., Aronson, S.M. (eds) Sphingolipids, Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 19. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6570-0_3
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DOI: https://doi.org/10.1007/978-1-4757-6570-0_3
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