An Indiana University School of Medicine physician scientist is making strides in understanding the molecular origins of fatty liver disease, a leading cause of liver failure in the United States. By ...

Ultragenyx Pharmaceutical (RARE) announced on Thursday that its gene therapy candidate DTX301 reached the main goal in a late-stage trial for ornithine transcarbamylase (OTC) deficiency, the most ...

INDIANAPOLIS — An Indiana University School of Medicine physician scientist is making strides in understanding the molecular origins of fatty liver disease, a leading cause of liver failure in the ...

Hyperammonemia is less severe in arginase 1 deficiency compared with other urea cycle defects. Affected patients manifest hyperargininemia and infrequent episodes of hyperammonemia. Patients typically ...

Sandra A. Banta-Wright, MN, RNC, NNP; Robert D. Steiner, MD Neonates with profound and prolonged hyperammonemia with coma due to urea cycle defect will have had a neurological insult to the brain that ...

Carbamoyl phosphate synthetase I (CPS1) deficiency (CPS1D), a rare type of urea cycle disorder (UCD), arises from an inborn error of metabolism. It is a genetic ...

Argininosuccinic aciduria (ASA) is a disorder caused by argininosuccinate lyase (ASL) deficiency and is the second most common inherited urea cycle defect.

A physician scientist is making strides in understanding the molecular origins of fatty liver disease, a leading cause of liver failure in the United States. An Indiana University School of Medicine ...