Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants-Reference-Cited by-同舟云学术

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Published:2022-10 Issue: Volume: Page:100314
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Vogel Georg F.^ORCID,Mozer-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

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference31 articles.

1. A learning collaborative approach increases specificity of diagnosis of acute liver failure in pediatric patients;Narkewicz;Clin Gastroenterol Hepatol,2018

2. Zeharia A, Shaag A, Pappo O, et al. Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet. 2009;85(3):401-407. Published correction appears in Am J Hum Genet. 2010;86(2):295. https://doi.org/10.1016/j.ajhg.2009.08.004

3. Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations;Schara;J Inherit Metab Dis,2011

4. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease;Uusimaa;J Med Genet,2011

5. Mitochondrial infantile liver disease due to TRMU gene mutations: three new cases;Gaignard;JIMD Rep,2013

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