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...

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Detalles Bibliográficos
Autores principales: Chen, Pingrun, Gao, Xin, Chen, Bin, Zhang, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005779/
https://www.ncbi.nlm.nih.gov/pubmed/33817322
http://dx.doi.org/10.1515/med-2021-0235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005779/
https://www.ncbi.nlm.nih.gov/pubmed/33817322
http://dx.doi.org/10.1515/med-2021-0235

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