Publications by authors named "Kathryn Leal"
Article Synopsis
- Arginase deficiency (ARG1-D) is a genetic condition that often gets misdiagnosed due to its varying symptoms, which can include spasticity, cognitive issues, and seizures.
- The study highlights three Latin American females with different symptoms caused by the same genetic variant, noting that all had elevated coagulopathy, with one case showing bleeding symptoms.
- Early diagnosis and treatment of ARG1-D can prevent serious health decline, yet many places still do not include it in newborn screening, risking missed diagnoses in seemingly healthy infants.
