Article
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Journal of inherited metabolic disease - 1 Jan 2016
Staufner Christian, Haack Tobias B, Köpke Marlies G, Straub Beate K, Kölker Stefan, Thiel Christian, Freisinger Peter, Baric Ivo, McKiernan Patrick J, Dikow Nicola, Harting Inga, Beisse Flemming, Burgard Peter, Kotzaeridou Urania, Lenz Dominic, Kühr Joachim, Himbert Urban, Taylor Robert W, Distelmaier Felix, Vockley Jerry, Ghaloul-Gonzalez Lina, Ozolek John A, Zschocke Johannes, Kuster Alice, Dick Anke, Das Anib M, Wieland Thomas, Terrile Caterina, Strom Tim M, Meitinger Thomas, Prokisch Holger, Hoffmann Georg F
Abstract excerpt
BACKGROUND: Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency and in about 50% the etiology remains unknown. Recently biallelic mutations in NBAS were identified as a new molecular cause of ALF with onset in infancy, leading to recurrent acute liver failure (RALF). METHODS: The phenotype and medical history of 14 individuals with NBAS deficiency was studied in detail and...
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