Anderson-Fabry disease.
- 1 July 1980
- journal article
- research article
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 103 (1) , 81-84
- https://doi.org/10.1111/j.1365-2133.1980.tb15841.x
Abstract
EM of clinically uninvolved skin taken from a 12-mo.-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothelial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected with Anderson-Fabry disease long before the development of specific skin lesions.This publication has 17 references indexed in Scilit:
- Angiokeratoma corporis diffusum (Fabry disease). A lysosomal diseaseArchives of Dermatology, 1976
- Replacement Therapy for Inherited Enzyme DeficiencyNew England Journal of Medicine, 1973
- Enzyme Transplantation in Fabry's DiseaseNew England Journal of Medicine, 1972
- Fabry's Disease: Antenatal DetectionScience, 1971
- Ceramide Trihexosidosis (Fabry's Disease) without Skin LesionsNew England Journal of Medicine, 1971
- Fine structure of the skin in angiokeratoma corporis diffusum (Fabry's disease)The Journal of Pathology, 1970
- FABRY'S DISEASE IN CHILDRENBritish Journal of Dermatology, 1970
- Enzymatic Defect in Fabry's DiseaseNew England Journal of Medicine, 1967
- Fabry's disease—glycolipid lipidosis: Histochemical and electron microscopic studies of two casesThe American Journal of Medicine, 1966
- A CASE OF “ANGEIO-KERATOMA.”British Journal of Dermatology, 1898