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Research Article
Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.
  1. A M Pierides,
  2. G Holti,
  3. A L Crombie,
  4. D F Roberts,
  5. S E Gardiner,
  6. A Colling,
  7. J Anderson

    Abstract

    A family in the north-east of England with Anderson--Fabry's disease is presented. Alpha-galactosidase activity in plasma and white cells was significantly reduced in three adult male members of the family. One of them had an abnormal chromosome karyotype pattern with an extra Y chromosome (47,XYY) and he was clinically less severely affected than his brothers. Coincidentally five other members of the family suffered from a form of familial spastic paraplegia.

    https://doi.org/10.1136/jmg.13.6.455

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