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Document type:
journal article 
Author(s):
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; Meiti...    »
 
Title:
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. 
Abstract:
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).The phenotype and medical history of 14 individuals with NBAS deficiency was studied in detail and functional studies were performed on patients' fibroblasts.The phenotypic spectrum of NBAS deficiency ranges from i...    »
 
Journal title abbreviation:
J Inherit Metab Dis 
Year:
2016 
Journal volume:
39 
Journal issue:
Pages contribution:
3-16 
Language:
eng 
Print-ISSN:
0141-8955 
TUM Institution:
Institut für Humangenetik