Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
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Authors
Vogel, Georg FMozer-Glassberg, Yael
Landau, Yuval E
Schlieben, Lea D
Prokisch, Holger
Feichtinger, René G
Mayr, Johannes A
Brennenstuhl, Heiko
Schröter, Julian
Pechlaner, Agnes
Alkuraya, Fowzan S
Baker, Joshua J
Barcia, Giulia
Baric, Ivo
Braverman, Nancy
Burnyte, Birute
Christodoulou, John
Ciara, Elzbieta
Coman, David
Das, Anibh M
Darin, Niklas
Della Marina, Adela
Distelmaier, Felix
Eklund, Erik A
Ersoy, Melike
Fang, Weiyan
Gaignard, Pauline
Ganetzky, Rebecca D
Gonzales, Emmanuel
Howard, Caoimhe
Hughes, Joanne
Konstantopoulou, Vassiliki
Kose, Melis
Kerr, Marina
Khan, Aneal
Lenz, Dominic
McFarland, Robert
Margolis, Merav Gil
Morrison, Kevin
Müller, Thomas
Murayama, Kei
Nicastro, Emanuele
Pennisi, Alessandra
Peters, Heidi
Piekutowska-Abramczuk, Dorota
Rötig, Agnès
Santer, René
Scaglia, Fernando
Schiff, Manuel
Shagrani, Mohmmad
Sharrard, Mark
Soler-Alfonso, Claudia
Staufner, Christian
Storey, Imogen
Stormon, Michael
Taylor, Robert W
Thorburn, David R
Teles, Elisa Leao
Wang, Jian-She
Weghuber, Daniel
Wortmann, Saskia
Issue Date
2022-10-29Keywords
Acute liver failureCysteine
Liver transplantation
Mitochondrial disease
Reversible
Metadata
Show full item recordJournal
Genetics in medicine : official journal of the American College of Medical GeneticsDOI
10.1016/j.gim.2022.09.015PubMed ID
3630585536305855
Item Type
ArticleOther
Language
enEISSN
1530-0366ae974a485f413a2113503eed53cd6c53
10.1016/j.gim.2022.09.015
Scopus Count
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