Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023)
Georg F. Vogel,Yael Mozer-Glassberg,Yuval E. Landau,Lea D. Schlieben,Holger Prokisch,Rene G. Feichtinger,Johannes A. Mayr,Heiko Brennenstuhl,Julian Schroter, Agnes Pechlaner,Fowzan S. Alkuraya,Joshua J. Baker,Giulia Barcia,Ivo Baric,Nancy Braverman,Birute Burnyte,John Christodoulou,Elzbieta Ciara,David Coman,Anibh M. Das,Niklas Darin,Adela Della Marina,Felix Distelmaier,Erik A. Eklund,Melike Ersoy, Weiyan Fang,Pauline Gaignard,Rebecca D. Ganetzky,Emmanuel Gonzales, Caoimhe Howard,Joanne Hughes,Vassiliki Konstantopoulou,Melis Kose,Marina Kerr,Aneal Khan,Dominic Lenz,Robert McFarland, Merav Gil Margolis, Kevin Morrison,Thomas Mueller,Kei Murayama,Emanuele Nicastro,Alessandra Pennisi,Heidi Peters,Dorota Piekutowska-Abramczuk,Agnes Rotig,Rene Santer,Fernando Scaglia,Manuel Schiff,Mohmmad Shagrani,Mark Sharrard,Claudia Soler-Alfonso,Christian Staufner, Imogen Storey,Michael Stormon,Robert W. Taylor,David R. Thorburn,Elisa Leao Teles,Jian-She Wang,Daniel Weghuber,Saskia Wortmannd Genetics in medicine : official journal of the American College of Medical Genetics（2023）
摘要
In most patients, TRMU-associated ALF is a transient, reversible disease and cysteine supplementation improved survival.
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关键词
Acute liver failure,Cysteine,Liver transplantation,Mitochondrial disease,Treatment
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