Hepatic Phenotype in NBAS‐Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
Liver abnormalities are common and the leading cause of death in NBAS-associated disease. There is a clear genotype-phenotype association regarding the hepatic involvement. Liver crises occur primarily during infancy; however, early medical attention in case of febrile infections is necessary at all ages. Liver transplantation prevents ALF, but its risks must be weighed against the frequency and severity of liver crises decreasing with age.
Authors
- Alexander Fichtner (ORCID: https://orcid.org/0000-0002-9939-4059)
- Nedim Hadzic
- Donald E. Fry (ORCID: https://orcid.org/0000-0002-5308-1671)
- Piotr Socha (ORCID: https://orcid.org/0000-0002-1621-464X)
- Andrea Pietrobattista (ORCID: https://orcid.org/0000-0002-4426-0395)
- Eberhard Lurz (ORCID: https://orcid.org/0000-0002-7479-7388)
- Bianca Peters (ORCID: https://orcid.org/0000-0001-6219-9172)
- Ellen Crushell (ORCID: https://orcid.org/0000-0003-3768-8569)
- Aixa Gonzalez Garcia (ORCID: https://orcid.org/0000-0002-2175-6128)
- Lea D. Schlieben (ORCID: https://orcid.org/0000-0001-6583-256X)
- Martin W. Laaß (ORCID: https://orcid.org/0000-0003-3670-3640)
- Sarah M. Bedoyan
- Neslihan Önenli Mungan (ORCID: https://orcid.org/0000-0001-7862-3038)
- Stefan Kölker (ORCID: https://orcid.org/0000-0001-5188-9477)
- Georg Friedrich Vogel (ORCID: https://orcid.org/0000-0002-2515-4490)
- Çiğdem Arıkan (ORCID: https://orcid.org/0000-0002-0794-2741)
- Robert Hegarty (ORCID: https://orcid.org/0000-0002-5893-6464)
- Holger Prokisch (ORCID: https://orcid.org/0000-0003-2379-6286)
- James E. Squires (ORCID: https://orcid.org/0000-0001-6979-8987)
- Marianne Hørby Jørgensen (ORCID: https://orcid.org/0000-0003-0658-4636)
- Fatma Derya Bulut (ORCID: https://orcid.org/0000-0003-0529-2404)
- Elke Lainka (ORCID: https://orcid.org/0000-0002-7624-2968)
- Heiko Brennenstuhl (ORCID: https://orcid.org/0000-0002-6909-0003)
- Dominic Lenz (ORCID: https://orcid.org/0000-0002-9561-8190)
- Sven F. Garbade (ORCID: https://orcid.org/0000-0002-7420-4757)
- Christian Staufner (ORCID: https://orcid.org/0000-0002-1403-9075)
- Carlo Dionisi‐Vici (ORCID: https://orcid.org/0000-0002-0007-3379)
- Georg F. Hoffmann (ORCID: https://orcid.org/0000-0002-6593-896X)
- Nicole Hammann (ORCID: https://orcid.org/0000-0002-3887-2168)
- Tian Sun
- Begoña Polo
- Lina Leghlam
- Ada Drab
Institutions
- Arkansas Children's Hospital (US)
- Koç University (TR)
- Innsbruck Medical University (AT)
- Universität Innsbruck (AT)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- TUM Klinikum (DE)
- Rigshospitalet (DK)
- Children's Health Ireland at Crumlin (IE)
- Helmholtz Zentrum München (DE)
- LMU Klinikum (DE)
- Hospital Universitari i Politècnic La Fe (ES)
- Children's Memorial Health Institute (PL)
- Bambino Gesù Children's Hospital (IT)
- National Children’s Research Centre (IE)
- Children's Hospital of Pittsburgh (US)
- ERN GUARD-Heart (NL)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- King's College Hospital (GB)
- University Hospital Carl Gustav Carus (DE)
- ERN RARE-LIVER (DE)
- Cukurova University (TR)
- University of Duisburg-Essen (DE)
- Technical University of Munich (DE)
- Technische Universität Dresden (DE)
- University of Arkansas for Medical Sciences (US)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- Liver International
- Published
- 2025-05-28
- DOI
- https://doi.org/10.1111/liv.70146
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- Dietmar Hopp Stiftung