Article
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
2017-01-01
Abstract excerpt
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only the identification of a pathogenic mutation in the GLA gene allows...
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Identifiers and source
- Literature Corpus work
- b78e492b-0def-5279-923c-902eaf5e11b9
- DOI
- 10.1177/2326409816685735