Chargement en cours...

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

Gaucher disease (GD; glucosylceramidosis) is caused by a deficient activity of the enzyme glucocerebrosidase (GC). Clinical manifestations are highly variable and cannot be predicted accurately on the basis of the properties of mutant GC. Analysis of secondary abnormalities, such as elevated plasma...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Hollak, C E, van Weely, S, van Oers, M H, Aerts, J M
Format: Artigo
Langue:Inglês
Publié: 1994
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC294082/
https://ncbi.nlm.nih.gov/pubmed/8132768
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!