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
Cochlear Implantation for Isoleucyl-tRNA Synthetase Mutation-Associated Mitochondrial Disease: A Case Report.
Motegi M et al.
Cureus, 2024
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
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
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
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich R et al.
American Journal of Human Genetics, 2016
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
26741492 (PubMed )
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