Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.

doi:10.1111/liv.70146

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Article

Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.

Liver international : official journal of the International Association for the Study of the Liver - 1 Jul 2025

Peters Bianca, Schlieben Lea Dewi, Brennenstuhl Heiko, Arikan Cigdem, Bedoyan Sarah M, Bulut Fatma Derya, Crushell Ellen, Dionisi-Vici Carlo, Drab Ada, Fichtner Alexander, Garcia Aixa Gonzalez, Fry Deanna, Garbade Sven F, Hammann Nicole, Hadzic Nedim, Hegarty Robert, Jørgensen Marianne Hørby, Laaß Martin, Lainka Elke, Leghlam Lina, Lurz Eberhard, Mungan Halise Neslihan Önenli, Pietrobattista Andrea, Polo Begona, Socha Piotr, Squires James E, Sun Tian, Vogel Georg F, Prokisch Holger, Kölker Stefan, Hoffmann Georg F, Staufner Christian, Lenz Dominic

Abstract excerpt

BACKGROUND AND AIMS: Since described in 2015, NBAS-associated disease has emerged as an important cause of acute liver failure (ALF) in children. We analysed the variable expression, genotype-phenotype association, outcome and prognostic factors of the hepatic involvement. METHODS: Individuals with biallelic pathogenic NBAS variants were recruited within an international observational study, including new and...

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Identifiers

PMID: 40433928
DOI: 10.1111/liv.70146
PMCID: PMC12117995

Genes

NBAS

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