Rationale: Hereditary angioedema (HAE) is a genetic condition characterized by dysregulation of the complement pathway leading to intermittent and recurrent episodes of angioedema. The goal of this project was to […]
Development and implementation of an automated severity scoring system to identify patients at possible increased risk for ten lysosomal disorders
Determining the disease-specific knowledge gaps in patients, family members, and caregivers living with lysosomal diseases.
There is a lack of information about knowledge gaps in the lysosomal storage disease (LSD) population, which limits the capacity for proper genetic counseling. This is the first study to […]
