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A mysterious cause of recurrent acute liver dysfunction for over a decade
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作者 Ahmet Burak dirim Tugba Kalayci +5 位作者 merve guzel dirim Semra Demir Bilger Cavus Asli Cifcibasi Ormeci Filiz Akyuz Sabahattin Kaymakoglu 《Gastroenterology Report》 SCIE EI 2022年第1期622-624,共3页
Introduction Acute liver failure(ALF)is an uncommon disease in pediatric cases.Etiology includes infections,autoimmune diseases,inborn errors of metabolism,and intoxications.Metabolic disorders account for 25%of resol... Introduction Acute liver failure(ALF)is an uncommon disease in pediatric cases.Etiology includes infections,autoimmune diseases,inborn errors of metabolism,and intoxications.Metabolic disorders account for 25%of resolved cases.However,the etiology remains unknown in half of pediatric ALF[1].The recognition of molecular etiopathogenesis has been facilitated after the common use of next-generation sequencing techniques.Recently,biallelic variants in neuroblastoma-amplified sequence(NBAS),Leucyl-tRNA synthetase 1(LARS1),and RAD50-interacting protein(RINT1)were identified in recurrent ALF(RALF)[2–4]. 展开更多
关键词 recurrent acute liver failure NBAS(neuroblastoma-amplified sequence) immunodysregulation clinical exome sequencing
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