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Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Apr 2020

Chavany J, Cano A, Roquelaure B, Bourgeois P, Boubnova J, Gaignard P, Hoebeke C, Reynaud R, Rhomer B, Slama A, Badens C, Chabrol B, Fabre A

Abstract excerpt

Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. However, despite thorough investigations, a cause cannot be determined in approximately 50% of cases. Here, we report three cases with recurrent ALF caused by NBAS and SCYL1 pathogenic variants. These patients did not present with any...

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PMID: 32146038
DOI: 10.1016/j.arcped.2020.01.003

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