Expanding the Diagnostic Toolkit of Wilson Disease with ATP7B Peptides
Author:
Funder
National Institutes of Health
Publisher
Elsevier BV
Subject
Gastroenterology,Hepatology
Reference15 articles.
1. Direct measurement of ATP7B peptides is highly effective in the diagnosis of Wilson disease;Collins;Gastroenterology,2021
2. Diagnosis and phenotypic classification of Wilson disease;Ferenci;Liver Int,2003
3. Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease;Merle;J Hepatol,2009
4. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype;Kluska;Liver Int,2019
5. Diverse functional properties of Wilson disease ATP7B variants;Huster;Gastroenterology,2012
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1. Assessment and factors affecting quality of life among patients with Wilson’s disease;Scientific Reports;2024-04-15
2. Copper homeostasis and cuproptosis in mitochondria;Life Sciences;2023-12
3. Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features;Annals of Translational Medicine;2021-09
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