Associated Papers
Pulmonary alveolar proteinosis and anemia may be associated with poor prognosis in patients with IARS1 variants.
Li SY et al.
Orphanet Journal of Rare Diseases, 2025
Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype.
Wongkittichote P et al.
Jimd Reports, 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
Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model.
Watanabe M et al.
International Journal of Molecular Sciences, 2023
Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report.
Zou TT et al.
Bmc Pediatrics, 2022
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