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

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 defici...

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Detalles Bibliográficos
Autores principales:	Fagbemi, Andrew, Newman, William G, Tangye, Stuart G, Hughes, Stephen M, Cheesman, Edmund, Arkwright, Peter D
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183863/ https://www.ncbi.nlm.nih.gov/pubmed/32351297 http://dx.doi.org/10.3748/wjg.v26.i15.1841

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