Direct measurement of ATP7B peptides is highly effective in the diagnosis of Wilson disease
Both existing clinical criteria and genetic testing have significant limitations for the diagnosis of Wilson disease (WD), often creating ambiguities in patient identification and leading to delayed diagnosis and ineffective management. ATP7B protein concentration, indicated by direct measurement of...
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| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
25 February 2021
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| In: |
Gastroenterology
Year: 2021, Volume: 160, Issue: 7, Pages: 2367-2382.e1 |
| ISSN: | 1528-0012 |
| DOI: | 10.1053/j.gastro.2021.02.052 |
| Online Access: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1053/j.gastro.2021.02.052 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0016508521004571 
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| Author Notes: | Christopher J. Collins, Fan Yi, Remwilyn Dayuha, Phi Duong, Simon Horslen, Michelle Camarata, Ayse K. Coskun, Roderick H.J. Houwen, Tudor L. Pop, Heinz Zoller, Han-wook Yoo, Sung Won Jung, Karl H. Weiss, Michael L. Schilsky, Peter Ferenci, and Si Houn Hahn |
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| 520 | |a Both existing clinical criteria and genetic testing have significant limitations for the diagnosis of Wilson disease (WD), often creating ambiguities in patient identification and leading to delayed diagnosis and ineffective management. ATP7B protein concentration, indicated by direct measurement of surrogate peptides from patient dried blood spot samples, could provide primary evidence of WD. | ||
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