Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts-Reference-Cited by-同舟云学术

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

Published:2015-11-05 Issue:1 Volume:39 Page:3-16
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

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.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-015-9896-7.pdf

Reference19 articles.

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2. Boyadjiev SA, Fromme JC, Ben J et al (2006) Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet 38(10):1192–1197

3. Garcia Segarra N, Ballhausen D, Crawford H et al (2015) NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. Am J Med Genet Part A 9999A:1–11

4. Haack TB, Hogarth P, Kruer MC et al (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 91(6):1144–1149

5. Haack TB, Staufner C, Kopke MG et al (2015) Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am J Hum Genet 97(1):163–169

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