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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...
Autores principales: | Hu, Shu-Wei, Lu, Wen-Li, Chiang, I-Ping, Wu, Shu-Fen, Wang, Chung-Hsing, Chen, An-Chyi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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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