Literature DB >> 28410752

Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency.

Vanessa Cardenas1, Frank DiPaola2, Stacie D Adams3, Alexander M Holtz4, Ayesha Ahmad3.   

Abstract

Entities:  

Keywords:  children; cholestasis; coagulopathy; febrile illness; hepatic failure; hepatitis; neuroblastoma amplified sequence deficiency

Mesh：

Substances：

Year:  2017        PMID： 28410752     DOI： 10.1016/j.jpeds.2017.03.040

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  2 in total

1.  Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

Authors:  Christian Staufner; Bianca Peters; Matias Wagner; Seham Alameer; Ivo Barić; Pierre Broué; Derya Bulut; Joseph A Church; Ellen Crushell; Buket Dalgıç; Anibh M Das; Anke Dick; Nicola Dikow; Carlo Dionisi-Vici; Felix Distelmaier; Neslihan Ekşi Bozbulut; François Feillet; Emmanuel Gonzales; Nedim Hadzic; Fabian Hauck; Robert Hegarty; Maja Hempel; Theresia Herget; Christoph Klein; Vassiliki Konstantopoulou; Robert Kopajtich; Alice Kuster; Martin W Laass; Elke Lainka; Catherine Larson-Nath; Alexander Leibner; Eberhard Lurz; Johannes A Mayr; Patrick McKiernan; Karine Mention; Ute Moog; Neslihan Onenli Mungan; Korbinian M Riedhammer; René Santer; Irene Valenzuela Palafoll; Jerry Vockley; Dominik S Westphal; Arnaud Wiedemann; Saskia B Wortmann; Gaurav D Diwan; Robert B Russell; Holger Prokisch; Sven F Garbade; Stefan Kölker; Georg F Hoffmann; Dominic Lenz
Journal:  Genet Med       Date:  2019-11-25       Impact factor: 8.822

2.  NBAS mutations cause acute liver failure: when acetaminophen is not a culprit.

Authors:  Pier Luigi Calvo; Francesco Tandoi; Tobias B Haak; Andrea Brunati; Michele Pinon; Dominic Dell Olio; Renato Romagnoli; Marco Spada
Journal:  Ital J Pediatr       Date:  2017-09-25       Impact factor: 2.638
  2 in total

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