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Article

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.

Pediatrics - 1 Jan 2017

Kortüm Fanny, Marquardt Iris, Alawi Malik, Korenke Georg Christoph, Spranger Stephanie, Meinecke Peter, Kutsche Kerstin

Abstract excerpt

Acute liver failure (ALF) is a life-threatening condition in the absence of preexisting liver disease in children. The main clinical presentation comprises hepatic dysfunction, elevated liver biochemical values, and coagulopathy. The etiology of ALF remains unclear in most affected children; however, the recent identification of mutations in the neuroblastoma amplified sequence (NBAS) gene in autosomal...

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Identifiers

PMID: 28031453
DOI: 10.1542/peds.2016-0550

Genes

NBAS

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