Articles with "neonatal sclerosing" as a keyword



Portal hypertension in doublecortin domain-containing protein 2 (DCDC2) related neonatal sclerosing cholangitis.

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Published in 2024 at "Journal of pediatric gastroenterology and nutrition"

DOI: 10.1002/jpn3.12414

Abstract: Mutations in doublecortin domain-containing protein 2 (DCDC2) lead to neonatal sclerosing cholangitis (NSC), and portal hypertension (PHTN). The objective of the study was to systematically evaluate PHTN, variceal bleeding, and outcomes of patients with DCDC2-related… read more here.

Keywords: containing protein; neonatal sclerosing; dcdc2 related; doublecortin domain ... See more keywords

Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children

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Published in 2023 at "Frontiers in Pediatrics"

DOI: 10.3389/fped.2023.1094895

Abstract: Background Neonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in DCDC2, commonly requiring liver transplantation (LT) for decompensated biliary cirrhosis in childhood. Methods The information of four… read more here.

Keywords: neonatal sclerosing; mutations dcdc2; sclerosing cholangitis; cholangitis novel ... See more keywords