Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
Beteiligte Einrichtungen
Abstract
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A (GLA). We evaluated a tandem mass spectrometry method to measure GLA activity.
Bibliografische Daten
| Originalsprache | Deutsch |
|---|---|
| Aufsatznummer | 19-20 |
| ISSN | 0009-8981 |
| Status | Veröffentlicht - 2010 |
| pubmed | 20338160 |
|---|
