Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency.

Christina Peroutka, Jacqueline Salas,Jacquelyn Britton,Juliet Bishop,Lisa Kratz,Maureen M Gilmore,Jill A Fahrner,W Christopher Golden,Tao Wang

JIMD reports（2019）

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摘要

This is the first case documenting neonatal manifestation of ILFS1, highlighting early, severe, and disproportionate defects in liver synthetic function. Timely diagnosis of ILFS1 is crucial to guide critical clinical management and improve outcomes of this rare and potentially life-threatening disorder.

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关键词

Fulminant liver failure,Infantile liver failure syndrome 1,Leucine-tRNA synthetase,Mutations,Neonate

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