Ontology highlight
ABSTRACT:
SUBMITTER: Mucci JM
PROVIDER: S-EPMC4433682 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Mucci Juan Marcos JM Rozenfeld Paula P
Journal of immunology research 20150503
Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macrophage lineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bone metabolism and structure and patients suffer from bone pain and crisis. Skeletal problems include osteopenia, os ...[more]