Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency

Introduction: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a pan-ethnic complicated inborn error of metabolism but the specific mechanism is not fully understood. Methods: A total of 169 patients with NICCD who have biallelic pathogenic SLC25A13 variants detected by targe...

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Detalles Bibliográficos
Autores principales: Zhang, Ting, Zhu, Shasha, Miao, Haixia, Yang, Jianbin, Shi, Yezhen, Yue, Yuwei, Zhang, Yu, Yang, Rulai, Wu, Benqing, Huang, Xinwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9449879/
https://www.ncbi.nlm.nih.gov/pubmed/36090036
http://dx.doi.org/10.3389/fmolb.2022.939837

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