Associated Papers
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.
Hammann N et al.
Journal of Inherited Metabolic Disease, 2024
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1.
Li SY et al.
Orphanet Journal of Rare Diseases, 2024
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
37976411 (PubMed )
Supplement: hep-79-1075-s005.xlsx › Sup_Table_4
Treatment of ARS deficiencies with specific amino acids.
Kok G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Lenz D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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