J Med Genet. 1976 Dec;13(6):455-61.

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

Pierides AM, Holti G, Crombie AL, Roberts DF, Gardiner SE, Colling A, Anderson J.

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.

PMID:: 828204; [PubMed - indexed for MEDLINE]
PMCID:: PMC1013470

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Study on a family with anderson--Fabry's disease and associated familial spastic...
Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.
J Med Genet. 1976 Dec ;13(6):455-61.

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

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