Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the lysosomal hydrolase, alpha-galactosidase, for which enzyme replacement therapy is now available. In this study, we aimed to identify Fabry heterozygotes not only for genetic counseling of families but because it is becoming increasingly obvious that many heterozygous (carrier) females are symptomatic and should be considered for treatment.
|Number of pages||7|
|Publication status||Published - Apr 2005|
- Fabry Disease
- Reproducibility of Results
- Spectrometry, Mass, Electrospray Ionization