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Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report

BACKGROUND: Here we report a rare case of citrullinemia type II (CTLN2) accompanied by mental derangement with a deficiency of multidrug resistance 3 (MDR3) in the liver. CASE PRESENTATION: The clinical data of a 17-year-old girl were collected. Liver puncture was performed, and hepatic expression o...

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Detalles Bibliográficos
Autores principales: Zhao, Hong, Yu, Xia, Cheng, Jinlin, Chen, Deying, Xu, Qiaomai, Sheng, Jifang, Shi, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10663841/
https://www.ncbi.nlm.nih.gov/pubmed/38027652
http://dx.doi.org/10.1016/j.heliyon.2023.e21760