Neonatal intrahepatic cholestasis caused by citrin deficiency:updated understanding / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 949-953,955, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-605972
ABSTRACT
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disease caused by SLC25A13 gene mutations, and is characterized by delayed jaundice clearance, liver dysfunction, and elevated aminoacidemia. The confirmed diagnosis depends on gene analysis. Citrin deficiency is one of the important causes of neonatal intrahepatic cholestasis in China. Recently more and more researches about NICCD were reported. The paper summarized the epidemiology, pathogenesis, clinical characteristics, and progresses in diagnosis and treatment of NICCD.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Journal of Clinical Pediatrics
Ano de publicação:
2016
Tipo de documento:
Artigo
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