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Article

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

European journal of medical genetics - 1 Aug 2017

Regateiro Frederico S, Belkaya Serkan, Neves Nélson, Ferreira Sandra, Silvestre Paula, Lemos Sónia, Venâncio Margarida, Casanova Jean-Laurent, Gonçalves Isabel, Jouanguy Emmanuelle, Diogo Luísa

Abstract excerpt

BACKGROUND: Acute liver failure (ALF) in children can be life-threatening. Although many causes are known, ALF remains unexplained in about half of the cases. Recently, bi-allelic mutations in NBAS were reported to underlie recurrent episodes of elevated liver transaminases (ELT) and ALF in the context of diverse extrahepatic phenotypes. METHODS AND RESULTS: We here describe two sisters, born to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28576691
DOI: 10.1016/j.ejmg.2017.05.005

Genes

NBAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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