open access
Pitfalls in diagnosing Wilson’s Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene
- Second Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02 957 Warsaw, Poland
open access
Abstract
Abstract
Keywords
Wilson’s Disease, copper, Leipzig score, radioactive copper incorporation test
Title
Pitfalls in diagnosing Wilson’s Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Letter to the Editors
Pages
478-480
Published online
2020-08-18
Page views
1013
Article views/downloads
1446
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2020;54(5):478-480.
Keywords
Wilson’s Disease
copper
Leipzig score
radioactive copper incorporation test
Authors
Agnieszka Antos
Tomasz Litwin
Marta Skowrońska
Iwona Kurkowska-Jastrzębska
Anna Członkowska
- European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012; 56(3): 671–685.
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- Al-Toma A, Volta U, Auricchio R, et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J. 2019; 7(5): 583–613.
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