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Article

Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report.

World journal of gastroenterology - 21 Apr 2020

Fagbemi Andrew, Newman William G, Tangye Stuart G, Hughes Stephen M, Cheesman Edmund, Arkwright Peter D

Abstract excerpt

BACKGROUND: Aminoacyl tRNA synthetases/ligases (ARSs) are highly conserved enzymes involved in attaching amino acids to tRNA promoting protein synthesis. Although deficiencies of ARSs localized to the mitochondria classically present with neuropathology, the clinical features of cytosolic ARS deficiencies are more variable. They have previously been associated with neonatal hepatitis, but never with early-onset...

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PMID: 32351297
DOI: 10.3748/wjg.v26.i15.1841
PMCID: PMC7183863

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