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Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report

Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidence of citrin deficiency is estimated between 1/10,000 and 1/20,000 in Taiwan. Case report: This report describes a case of a 42 day old female infant who suffered from...

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Detalles Bibliográficos
Autores principales: Hu, Shu-Wei, Lu, Wen-Li, Chiang, I-Ping, Wu, Shu-Fen, Wang, Chung-Hsing, Chen, An-Chyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8541001/
https://www.ncbi.nlm.nih.gov/pubmed/34684069
http://dx.doi.org/10.3390/medicina57101032

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