Associated Papers
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
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
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
Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report.
Fagbemi A et al.
World Journal of Gastroenterology, 2020
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
Orenstein N et al.
Clinical Genetics, 2017
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