Abstract
A family in the north east of England with 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.
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CITATION STYLE
Pierides, A. M., Holti, G., Crombie, A. L., Roberts, D. F., Gardiner, S. E., Colling, A., & Anderson, J. (1976). Study on a family with Anderson Fabry’s disease and associated familial spastic paraplegia. Journal of Medical Genetics, 13(6), 455–461. https://doi.org/10.1136/jmg.13.6.455
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