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Article

[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Aug 2017

Lin Wei-Xia, Zheng Qi-Qi, Guo Li, Cheng Ying, Song Yuan-Zong

Abstract excerpt

Infantile liver failure syndrome type 1 (ILFS1) is a Mendelian disease due to biallelic mutations in the cytoplasmic leucyl-tRNA synthetase gene (LARS). This study aimed to report the clinical and molecular features of the first non-caucasian ILFS1 patient, providing reliable evidences for the definite diagnosis of ILFS1. The 2 years and 9 months old male patient was referred to the hospital with...

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PMID: 28774368
PMCID: PMC7390053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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