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Fabry's disease: a multidisciplinary disorder.
  1. F. P. Peters,
  2. A. Sommer,
  3. A. Vermeulen,
  4. E. C. Cheriex,
  5. T. L. Kho
  1. Department of Internal Medicine, University Hospital Maastricht, The Netherlands.

    Abstract

    Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic examination. Treatment is symptomatic. We want to stress the multidisciplinary collaboration necessary to deal with this condition, in order to prevent acceleration of symptoms.

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