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Literature DB >> 23556051

Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases.

Joo Whee Kim¹, Jong Hyun Kim, Jeong Kee Seo, Jae Sung Ko, Ju Young Chang, Hye Ran Yang, Kyung Hoon Kang.

Abstract

Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphosphatase 7B gene. It is rare to diagnose WD below the age of three years. Molecular genetic testing is one of the most important diagnostic methods and may confirm the diagnosis in equivocal cases. We report a case of a 9-mo old boy with WD who presented as chronic hepatitis. Genetic analysis showed compound heterozygotes of p.G1186S and c.4006delA.

Entities: Disease Mutation Species

Keywords: Early diagnosis; Hepatolenticular degeneration; Molecular genetics; Mutation; Wilson disease

Year: 2013 PMID： 23556051 PMCID： PMC3612577 DOI： 10.4254/wjh.v5.i3.156

Source DB: PubMed Journal: World J Hepatol

12 in total

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13 in total

Review 1. Update on the Diagnosis and Management of Wilson Disease.

Authors: Eve A Roberts
Journal: Curr Gastroenterol Rep Date: 2018-11-05

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7. Wilson disease with hepatic presentation in an eight-month-old boy.

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Review 8. Wilson's disease and other neurological copper disorders.

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9. Evolution of exchangeable copper and relative exchangeable copper through the course of Wilson's disease in the Long Evans Cinnamon rat.

Authors: Françoise Schmitt; Guillaume Podevin; Joël Poupon; Jérôme Roux; Pierre Legras; Jean-Marc Trocello; France Woimant; Olivier Laprévote; Tuan Huy Nguyen; Souleiman El Balkhi
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10. Handling variability and incompleteness of biological data by flexible nets: a case study for Wilson disease.

Authors: Jorge Júlvez; Duygu Dikicioglu; Stephen G Oliver
Journal: NPJ Syst Biol Appl Date: 2018-01-11