首页 正文

Relationship between elevated arginine and pathophysiology of progressive disease in arginase 1 deficiency

{{output}}
Background: Arginase 1 deficiency (ARG1-D; OMIM #207800) is a rare urea cycle disorder caused by loss of arginase activity, preventing the hydrolysis of arginine to ornithine and urea. The resulting hyperargininaemia leads to acc... ...