Open AccessDiagnosing Wilson’s Disease under the sword of Damocles
Author(s) -
Ronald F. Pfeiffer
Publication year - 2020
Publication title -
neurologia i neurochirurgia polska
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.484
H-Index - 26
eISSN - 1897-4260
pISSN - 0028-3843
DOI - 10.5603/pjnns.2020.0086
Subject(s) - medicine , genetic testing , diagnostic test , disease , sword , wilson's disease , test (biology) , genetic diagnosis , intensive care medicine , pathology , pediatrics , genetics , gene , paleontology , computer science , biology , operating system
Antos et al. [7] have reported a case of suspected uniparental disomy leading to an initial erroneous diagnosis of Wilson's Disease on the basis of genetic testing. They discuss the usefulness of the 64Cu radioactive copper incorporation test as an often-overlooked diagnostic aid.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom