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A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment
LC. Penning, M. Berenguer, A. Czlonkowska, KL. Double, P. Dusek, C. Espinós, S. Lutsenko, V. Medici, W. Papenthin, W. Stremmel, J. Willemse, R. Weiskirchen
Status neindexováno Jazyk angličtina Země Švýcarsko
Typ dokumentu časopisecké články
NLK
Directory of Open Access Journals
od 2013
PubMed Central
od 2013
Europe PubMed Central
od 2013
ProQuest Central
od 2013-01-01
Open Access Digital Library
od 2013-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2013
- Publikační typ
- časopisecké články MeSH
Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the ATP7B gene result in copper accumulation in hepatocytes and/or neurons, but clinical diagnosis remains challenging. Diagnosis is complicated by mild, non-specific presentations, mutations exerting no clear effect on protein function, and inconclusive laboratory tests, particularly regarding serum ceruloplasmin levels. As early diagnosis and effective treatment are crucial to prevent progressive damage, we report here on the establishment of a global collaboration of researchers, clinicians, and patient advocacy groups to identify and address the outstanding challenges posed by WD.
2nd Department of Neurology Institute of Psychiatry and Neurology 02 957 Warsaw Poland
Department of Medicine Johns Hopkins University School of Medicine Baltimore MD 1800 USA
Department of Physiology Johns Hopkins University School of Medicine Baltimore MD 1800 USA
Dutch Society for Liver Disease Patients 3828 NS Hoogland The Netherlands
German Society for Wilson disease Patients Zehlendorfer Damm 119 D 14532 Kleinnachnow Germany
Private Practice for Internal Medicine Beethovenstraße 2 D 76530 Baden Baden Germany
Rare Neurodegenerative Diseases Lab Centro de Investigacion Principe Felipe 46012 Valencia Spain
Citace poskytuje Crossref.org
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- $a Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the ATP7B gene result in copper accumulation in hepatocytes and/or neurons, but clinical diagnosis remains challenging. Diagnosis is complicated by mild, non-specific presentations, mutations exerting no clear effect on protein function, and inconclusive laboratory tests, particularly regarding serum ceruloplasmin levels. As early diagnosis and effective treatment are crucial to prevent progressive damage, we report here on the establishment of a global collaboration of researchers, clinicians, and patient advocacy groups to identify and address the outstanding challenges posed by WD.
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