Journal article
Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
Abstract
Gaucher disease (OMIM #230800) is caused by β-glucosidase deficiency and primarily involves the mononuclear phagocyte system (also called Reticuloendothelial System or Macrophage System). The disease is classified into three main phenotypes based on the presence or absence of neurological manifestations: non-neuronopathic (type 1), acute neuronopathic (type 2) and chronic neuronopathic (type 3). Typical manifestations include …
Authors
Mhanni AA; Kozenko M; Hartley JN; Deneau M; El-Matary W; Rockman-Greenberg C
Journal
Molecular Genetics and Metabolism Reports, Vol. 6, , pp. 13–15
Publisher
Elsevier
Publication Date
3 2016
DOI
10.1016/j.ymgmr.2015.12.001
ISSN
2214-4269