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Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.

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Staufner, Christian | Haack, Tobias B | Köpke, Marlies G | Straub, Beate K | Kölker, Stefan | Thiel, Christian | Freisinger, Peter | Barić, 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

Edité par CCSD ; Springer Verlag -

International audience. BackgroundAcute liver failure (ALF) in infancy and child-hood is a life-threatening emergency and in about 50 % theetiology remains unknown. Recently biallelic mutations inNBASwere identified as a new molecular cause of ALF withonset in infancy, leading torecurrent acute liver failure(RALF).MethodsThe phenotype and medical history of 14 individ-uals with NBAS deficiency was studied in detail and function-al studies were performed on patients’fibroblasts.

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