| Literature DB >> 828204 |
A M Pierides, G Holti, A L Crombie, D F Roberts, S E Gardiner, A Colling, 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.Entities:
Mesh：
Year: 1976 PMID： 828204 PMCID： PMC1013470 DOI： 10.1136/jmg.13.6.455
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318