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

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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… Click to show full abstract

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).

Keywords: deficiency presenting; neonatal cholestasis; transient neonatal; abcb11 deficiency; cholestasis

Journal Title: Liver International
Year Published: 2020

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