Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants

Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants wit...

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Detalles Bibliográficos
Autores principales: Ko, Jae Sung, Song, Jung Han, Park, Sung Sup, Seo, Jeong Kee
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2007
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694627/
https://www.ncbi.nlm.nih.gov/pubmed/18162705
http://dx.doi.org/10.3346/jkms.2007.22.6.952

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