Studies on the Metabolic Control of Fabry’s Disease Through Kidney Transplantation

  • Michel Philippart
  • Stanley S. Franklin
  • Arthur Gordon
  • Donald Leeber
  • Alan R. Hull
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)


The development of the lysosome concept (7) has lately provided a theoretical background to our understanding of the pathogenesis of the so-called lipid storage disorders. A rational approach to the seemingly insurmountable problem of therapy has now become feasible on that basis. Indeed, lysosomal enzymes can be taken up by fibroblasts (22,29) and other types of cells such as those of the reticulo-endothelial system (7), kidney (25), and liver (13). As expected, the blood-brain barrier prevents extraneous enzymes from reaching the brain (1,12). This limits the value of replacement therapy to those rare lipid storage disorders with no brain involvement such as chronic Gaucher’s disease (18) or minimal primary nervous lesions such as Fabry’s disease (16,23).


Kidney Transplantation Metabolic Control Lysosomal Enzyme Rejection Episode Lysosomal Hydrolase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • Michel Philippart
    • 1
  • Stanley S. Franklin
    • 2
  • Arthur Gordon
    • 2
  • Donald Leeber
    • 3
  • Alan R. Hull
    • 3
  1. 1.Mental Retardation Center, The Neuropsychiatric Institute and Departments of PediatricsNeurology and PsychiatryUSA
  2. 2.Department of MedicineUniversity of CaliforniaUSA
  3. 3.Department of Internal MedicineUniversity of Texas Southwestern Medical SchoolDallasUSA

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