Associated Papers
Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.
Aelvoet Y et al.
Jimd Reports, 2025
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW et al.
Journal of Gastroenterology and Hepatology, 2024
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.
Guo R et al.
Bmc Medical Genomics, 2023
Fatal systemic disorder caused by biallelic variants in FARSA.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2022
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