Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention.
Abstract:Gaucher disease (GD) is a progressive lysosomal storage disease that can lead to life-threatening complications. Anecdotal experiences of patients and physicians suggest that symptoms and signs of the disease may go undiagnosed for many years, resulting in severe yet preventable complications. We conducted surveys of patients and Hematology/Oncology specialists to assess the frequency of diagnostic delays. Furthermore, we reviewed a series of patients in whom prolonged misdiagnosis resulted in serious complica… Show more
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.