Hepatocyte Transplant and Bridge to Subsequent Liver Transplant in an Infant with Carbamoyl Phosphate Synthetase Deficiency
2018
Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle that causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed-onset type. Neonatal CPS1D cases often present their symptoms within the first day
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