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 |
Externí odkaz: |
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