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. 1976 Dec;13(6):455–461. doi: 10.1136/jmg.13.6.455

Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

A M Pierides, G Holti, A L Crombie, D F Roberts, S E Gardiner, A Colling, J Anderson
PMCID: PMC1013470  PMID: 828204

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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