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Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

Abstract Background Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of a...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Kwang Yeon Kim, Tae Hyeong Kim, Moon-Woo Seong, Sung Sup Park, Jin Soo Moon, Jae Sung Ko
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2020-08-01
Schriftenreihe:BMC Pediatrics
Schlagworte:
Dubin-Johnson syndrome
Neonatal cholestasis
ABCC2
Aspartate transaminase
Alanine transaminase
Online-Zugang:http://link.springer.com/article/10.1186/s12887-020-02260-0
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