Articles with "deficiency presenting" as a keyword



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

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Published in 2020 at "Liver International"

DOI: 10.1111/liv.14642

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). read more here.

Keywords: deficiency presenting; neonatal cholestasis; transient neonatal; abcb11 deficiency ... See more keywords