Ontology highlight
ABSTRACT:
SUBMITTER: Mistry PK
PROVIDER: S-EPMC3058841 | biostudies-other | 2011 Jan
REPOSITORIES: biostudies-other
Mistry Pramod K PK Cappellini Maria Domenica MD Lukina Elena E Ozsan Hayri H Mach Pascual Sara S Rosenbaum Hanna H Helena Solano Maria M Spigelman Zachary Z Villarrubia Jesús J Watman Nora Patricia NP Massenkeil Gero G
American journal of hematology 20110101 1
Type 1 (non-neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. There are currently four treatment options available to patients with Gaucher disease, nevertheless, almost 25% of Type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms. Diagnosis of Gaucher disease by enzyme tes ...[more]