Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2 presenting with paroxysmal altered consciousn...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2021-03-01
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| Series: | Open Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/med-2021-0235 |