Publications by authors named "Elaine Barrington-Ward"
Article Synopsis
- - Hereditary coproporphyria (HCP) is a rare genetic condition with a low incidence and typically mild symptoms, but a family study revealed higher penetrance and severity, with 57-71% of family members showing symptoms.
- - Some affected individuals experienced severe complications, including life-threatening issues and opioid dependence, which complicates treatment options.
- - The case study explores new treatments, including an mRNA interference drug called givosiran, ketamine for acute attacks, and innovative embryo selection techniques, emphasizing the need for international registries to improve understanding and management of HCP.
