Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia. Issue 6 (December 1976)
- Record Type:
- Journal Article
- Title:
- Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia. Issue 6 (December 1976)
- Main Title:
- Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.
- Authors:
- Pierides, A M
Holti, G
Crombie, A L
Roberts, D F
Gardiner, S E
Colling, A
Anderson, J - Abstract:
- 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.
- Is Part Of:
- Journal of medical genetics. Volume 13:Issue 6(1976)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 13:Issue 6(1976)
- Issue Display:
- Volume 13, Issue 6 (1976)
- Year:
- 1976
- Volume:
- 13
- Issue:
- 6
- Issue Sort Value:
- 1976-0013-0006-0000
- Page Start:
- 455
- Page End:
- 461
- Publication Date:
- 1976-12
- Subjects:
- Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.13.6.455 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 18343.xml