Literature DB >> 16423615

Direct diagnosis of Wilson disease by molecular genetics.

Silvia Caprai1, Georgios Loudianos, Francesco Massei, Laura Gori, Mario Lovicu, Giuseppe Maggiore.   

Abstract

In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal, which made the diagnosis of Wilson disease unlikely, analysis of ATP7B gene showed disease causing mutations in all. Molecular diagnosis should be considered in children with enigmatic liver disease, especially those with features of nonalcoholic fatty liver disease.

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Year:  2006        PMID: 16423615     DOI: 10.1016/j.jpeds.2005.07.036

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


  5 in total

Review 1.  Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.

Authors:  Jeong Kee Seo
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2012-12-31

2.  Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.

Authors:  Julnar Usta; Hussein Abu Daya; Houssam Halawi; Ibraheem Al-Shareef; Omar El-Rifai; Ahmad H Malli; Ala I Sharara; Robert H Habib; Kassem Barada
Journal:  JIMD Rep       Date:  2011-11-08

Review 3.  The genetics of Wilson disease.

Authors:  Irene J Chang; Si Houn Hahn
Journal:  Handb Clin Neurol       Date:  2017

Review 4.  Persistent hypertransaminasemia in asymptomatic children: a stepwise approach.

Authors:  Pietro Vajro; Sergio Maddaluno; Claudio Veropalumbo
Journal:  World J Gastroenterol       Date:  2013-05-14       Impact factor: 5.742

5.  Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease.

Authors:  Sarah Guttmann; Friedrich Bernick; Magdalena Naorniakowska; Ulf Michgehl; Sara Reinartz Groba; Piotr Socha; Andree Zibert; Hartmut H Schmidt
Journal:  Front Pediatr       Date:  2018-04-30       Impact factor: 3.418

  5 in total

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