Article
Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes.
Journal of lipid research - 1 Feb 1990
Hozumi I, Nishizawa M, Ariga T, Miyatake T
Abstract excerpt
Angiokeratoma corporis diffusum (Fabry's disease) is an X-linked disorder of glycosphingolipid catabolism. Heterozygous females, although usually asymptomatic, are occasionally as severely afflicted as hemizygous males; recently we identified a heterozygous patient with cardiomyopathy and severe...
Topics
- Adolescent
- Adult
- Fabry Disease
- Female
- Gangliosides
- Genotype
- Globosides
- Glycolipids
- Glycosphingolipids
- Heterozygote
- Humans
- Lysosomes
- Male
- Middle Aged
- Tissue Distribution
- Trihexosylceramides