ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression

Background & Aims ABCB11 deficiency presenting in infancy is believed generally to manifest as persistent/progressive cholestasis. We describe a group of patients with biallelic ABCB11 variants whose disorder manifested as transient neonatal cholestasis (TNC). Methods Neonatal intrahepatic chole...

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Veröffentlicht in:	Liver international 2020-11, Vol.40 (11), p.2788-2796
Hauptverfasser:	Li, Li‐Ting, Li, Zhong‐Die, Yang, Ye, Lu, Yi, Xie, Xin‐Bao, Chen, Lian, Feng, Jia‐Yan, Knisely, A. S., Wang, Jian‐She
Format:	Artikel
Sprache:	eng
Schlagworte:	ABCB11 ATP Binding Cassette Transporter, Subfamily B, Member 11 - genetics ATP-Binding Cassette Transporters - genetics Bile Biomarkers Birth Child Cholestasis Cholestasis - genetics Cholestasis, Intrahepatic - diagnosis Cholestasis, Intrahepatic - genetics Gallbladder diseases Genotype Genotypes genotype‐phenotype Humans Infant Infant, Newborn Jaundice Male Males Median (statistics) Mutation Neonates Patients
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