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Autor:
Irene K. Miura, Renata Pugliese, Adriana Porta, C. M. F. Ribeiro, Paula S M Rigo, Vera B. Danesi, Gilda Porta, Cristian C V Borges, Eliene Oliveira
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 72:674-676
A case of low-γ-glutamyltranspetidase cholestasis associated with ubiquitin-specific peptidase 53 (USP53) gene mutation in a Brazilian child is described. Transient jaundice and hypocholia started at the age of 10 days. Liver enzymes, total bilirubi