Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency-Reference-Cited by-同舟云学术

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Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency

Published:2018 Issue: Volume: Page:71-76
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Peroutka Christina,Salas Jacqueline,Britton Jacquelyn,Bishop Juliet,Kratz Lisa,Gilmore Maureen M.,Fahrner Jill A.,Golden W. Christopher,Wang Tao

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2018_143

Reference10 articles.

1. Bitar R, Thwaites R, Davison S et al (2017) Liver failure in early infancy: aetiology, presentation, and outcome. J Pediatr Gastroenterol Nutr 64:70–75

2. Casey J, McGettigan P, Lynam-Lennon N et al (2012) Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol Genet Metab 106:351–358

3. Casey J, Slattery S, Cotter M et al (2015) Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS. J Inherit Metab Dis 38:1085–1092

4. Devictor D, Tissieres P, Durand P et al (2011) Acute liver failure in neonates, infants and children. Expert Rev Gastroenterol Hepatol 5:717–729

5. El-Gharbawy A, Sebastian J, Ghaloul-Gonzalez L, Mroczkowski J, Goldstein A, Venkat V, Dobrowolski S, Squires R, Vockley J (2015) LARS mutations in non-Irish travelers: an under-recognized multi-system disorder characterized by infantile hepatopathy during physiological stress. Mitochondrion 24(Suppl):S40–S41

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1. A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants;Human Genetics and Genomics Advances;2024-07

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

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

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

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

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