Associated Papers
Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype.
Wongkittichote P et al.
Jimd Reports, 2025
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation.
Kok G et al.
Nucleic Acids Research, 2025
Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency.
Wu J et al.
Frontiers in Pharmacology, 2025
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.
Watanabe M et al.
Genes, 2024
Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.
Jiang J et al.
Molecular Genetics & Genomic Medicine, 2024
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism.
Lehmann V et al.
Journal of Inherited Metabolic Disease, 2022
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
Select a paper to view details