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Title:

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Document type:
Journal Article
Author(s):
Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen...     »
Abstract:
BACKGROUND AND AIMS: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%-16%) and inherited metabolic diseases (14%-28%). Yet, in up to 50% of cases the underlying etiology remains elusive, challenging clinical management, including liver transplantation. We systematically studied indeterminate PALF cases referred for genetic evaluation by whole-exome sequencing (WES), and analyzed phenotypic and biochemical markers, and the...     »
Journal title abbreviation:
Hepatology
Year:
2024
Journal volume:
79
Journal issue:
5
Pages contribution:
1075-1087
Fulltext / DOI:
doi:10.1097/HEP.0000000000000684
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37976411
Print-ISSN:
0270-9139
TUM Institution:
1430; 47; 554; Institut für Humangenetik (Prof. Winkelmann)
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