Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.
Beteiligte Einrichtungen
Abstract
Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann-Pick disease type A/B) and Niemann-Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children
Bibliografische Daten
| Originalsprache | Deutsch |
|---|---|
| Aufsatznummer | 5 |
| ISSN | 0141-8955 |
| Status | Veröffentlicht - 2006 |
| pubmed | 16972172 |
|---|
