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Article

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.

PloS one - 1 Jan 2016

Valencia C Alexander, Wang Xinjian, Wang Jin, Peters Anna, Simmons Julia R, Moran Molly C, Mathur Abhinav, Husami Ammar, Qian Yaping, Sheridan Rachel, Bove Kevin E, Witte David, Huang Taosheng, Miethke Alexander G

Abstract excerpt

BACKGROUND & AIMS: The etiology of acute liver failure (ALF) remains elusive in almost half of affected children. We hypothesized that inherited mitochondrial and fatty acid oxidation disorders were occult etiological factors in patients with idiopathic ALF and impaired energy metabolism. METHODS: Twelve patients with elevated blood molar lactate/pyruvate ratio and indeterminate etiology were selected from a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

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Share to Liver Failure, Acute

Share to Mitochondria

Source

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Identifiers

PMID: 27483465
DOI: 10.1371/journal.pone.0156738
PMCID: PMC4970743

Genes

ACAD9
DGUOK
POLG
POLG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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