Publications by authors named "Saeed Boholega"
Exp Clin Transplant
December 2018
Article Synopsis
- - Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder caused by mutations in the TYMP gene, leading to enzyme deficiency that disrupts mitochondrial function and results in various severe symptoms like muscle wasting and neurological issues.
- - A case series involving 3 patients from Saudi Arabia who received allogeneic stem cell transplants showed high mortality rates, with two patients dying within a year and one alive but with no clinical improvement.
- - Although stem cell transplants can correct genetic and biochemical defects in MNGIE, their effectiveness in improving the actual clinical symptoms remains unproven, indicating challenges in treating this complex condition.
