The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
J Inherit Metab Dis
; 28(5): 803-5, 2005.
Article
en En
| MEDLINE
| ID: mdl-16151917
Female heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of alpha-galactosidase. We systematically evaluated the activities of various lysosomal enzymes in dried blood samples from Fabry patients and found that the beta-glucuronidase activity was frequently elevated. The ratio of alpha-galactosidase to beta-glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients.
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Base de datos:
MEDLINE
Asunto principal:
Sangre
/
Enfermedad de Fabry
/
Alfa-Galactosidasa
/
Terapia Enzimática
/
Glucuronidasa
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2005
Tipo del documento:
Article