Hepatocyte Transplant and Bridge to Subsequent Liver Transplant in an Infant with Carbamoyl Phosphate Synthetase Deficiency

Autor: Sojeong Yoon, Suk-Koo Lee, Seung Wook Han, Young-A Kim, Sung Yoon Cho, Ji Hyun Lee, Sang-Hoon Lee, Mi Na Park, Hey-Jung Park
Rok vydání: 2018
Předmět:
Zdroj: Transplantation. 102:S851
ISSN: 0041-1337
DOI: 10.1097/01.tp.0000543919.94598.08
Popis: 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
Databáze: OpenAIRE