Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease

Gaucher disease (GD) is one of the most common lysosomal storage diseases resulting from a deficiency of glucocerebrosidase. Three main types have been described, with type 2 being the most rare and severe form. Here we investigated the clinical symptoms and mutation spectrum in 20 unrelated type 2 GD patients.
Source: Brain and Development - Category: Neurology Authors: Tags: Original article Source Type: research