The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

Mutations in GBA1 gene that encodes lysosomal glucocerebrosidase result in Type 1 Gaucher Disease (GD), the commonest lysosomal storage disorder; the most prevalent disease mutation is N370S. We investigated the heterogeneity and natural course of N370S GD in 403 patients. Demographic, clinical, and...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Taddei, Tamar H., Kacena, Katherine A., Yang, Mei, Yang, Ruhua, Malhotra, Advitya, Boxer, Michael, Aleck, Kirk A., Rennert, Gadi, Pastores, Gregory M., Mistry, Pramod K.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2009
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3008404/
https://ncbi.nlm.nih.gov/pubmed/19260119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.21362
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge