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- Title
Fabry or not Fabry - a question of ascertainment.
- Authors
Houge, Gunnar; Tøndel, Camilla; Kaarbøe, Øyvind; Hirth, Asle; Bostad, Leif; Svarstad, Einar
- Abstract
The article focuses on a family which was suspected to have Fabry disease. It says that Fabry-specific lipid deposits were found in the transplanted kidneys of a 16-year-old male traffic victim. It mentions that the boy's mother and the mother's three sisters were diagnosed with from 10 to 16% of lower normal enzyme activity levels in blood leukocytes, as usually found in Fabry heterozygotes. However, the boy had no Fabry-related symptoms which showed the absence of Fabry disease in the family.
- Subjects
LYSOSOMAL storage diseases; KIDNEY transplantation; FAMILIAL diseases; LEUCOCYTES; GENETIC carriers; DIAGNOSIS
- Publication
European Journal of Human Genetics, 2011, Vol 19, Issue 11, p1111
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2011.87