Johannes Haeberle

This study looks at how the liver processes energy and removes ammonia in people with citrin deficiency, a rare genetic disorder. Researchers will give special labeled substances (stable isotopes) to 20 adults—some with the condition and some healthy—to track liver activity. The …

This study looks at blood samples from 100 people with citrin deficiency, a rare inherited condition that affects the liver and metabolism. Researchers want to find specific substances in the blood that can show how severe the disease is or how well treatments are working. The go…