Associated Papers
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency.
Averdunk L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
Grigalionienė K et al.
Orphanet Journal of Rare Diseases, 2023
Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY.
Kuan J et al.
Frontiers in Pediatrics, 2023
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
Estève C et al.
European Journal of Medical Genetics, 2021
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