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Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease)
  1. Angus I. Rae,
  2. John C. Lee,
  3. James Hopper, Jr.
  1. Department of Medicine, University of California School of Medicine, San Francisco, California, U.S.A.
  2. Department of Pathology, University of California School of Medicine, San Francisco, California, U.S.A.

    Abstract

    A case of glycolipid lipoidosis (Fabry's disease) in a 27-year-old man is recorded. The case is unusual in that despite extensive disease evidenced by widespread skin lesions, ocular abnormalities, and proteinuria, renal function was only minimally impaired. Electron microscope studies of kidney and skin showed that most cells contained the characteristic lipid described in this condition.

    https://doi.org/10.1136/jcp.20.1.21

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