Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1-Reference-Cited by-同舟云学术

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Published:2020-11 Issue:11 Volume:22 Page:1863-1873
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Lenz Dominic,Smith Desirée E.C.,Crushell Ellen,Husain Ralf A.,Salomons Gajja S.,Alhaddad Bader,Bernstein Jonathan A.,Bianzano Alyssa,Biskup Saskia,Brennenstuhl Heiko,Caldari Dominique,Dikow Nicola,Haack Tobias B.,Hanson-Kahn Andrea,Harting Inga,Horn Denise,Hughes Joanne,Huijberts Maya,Isidor Bertrand,Kathemann Simone,Kopajtich Robert,Kotzaeridou Urania,Küry Sébastien,Lainka Elke,Laugwitz Lucia,Lupski James R.,Posey Jennifer E.,Reynolds Claire,Rosenfeld Jill A.,Schröter Julian,Vansenne Fleur,Wagner Matias,Weiß Claudia,Wolffenbuttel Bruce H.R.,Wortmann Saskia B.,Kölker Stefan,Hoffmann Georg F.,Prokisch Holger,Mendes Marisa I.,Staufner Christian^ORCID

Funder

Leberstiftung

Dietmar Hopp Stiftung

Bundesministerium für Bildung und Forschung

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-0904-4.pdf

Reference34 articles.

1. Acute liver failure in children: the first 348 patients in the pediatric acute liver failure study group;Squires;J Pediatr,2006

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration;Journal of Inherited Metabolic Disease;2024-07

2. Two siblings with acute necrotizing encephalopathy associated with variants of LARS1;American Journal of Medical Genetics Part A;2024-06-24

3. Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1;Orphanet Journal of Rare Diseases;2024-06-06

4. Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy;Orphanet Journal of Rare Diseases;2024-05-28

5. Predictive modeling provides insight into the clinical heterogeneity associated withTARS1loss-of-function mutations;2024-03-27