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Gut Lesions in Fabry's Disease Without a Rash
  1. D. M. Flynn,
  2. B. D. Lake,
  3. C. B. Boothby,
  4. Elisabeth P. Young

    Abstract

    Twin boys with Fabry's disease and 6 affected relatives were described. Limb pains and retinal vessel tortuosity were present but no patient had angiokeratomata. One boy had a severe enteropathy with small and large bowel involvement which was investigated. Thin-layer chromatography showed that excesses of ceramide di- and trihexosides were excreted in the urine. Leucocyte α-galactosidase activity was measured: hemizygous males showed very low activity, while obligate and probable heterozygous females had values intermediate between those of the patients and the normal controls.

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