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: Collins, Christopher (Author) , Yi, Fan (Author) , Dayuha, Remwilyn (Author) , Duong, Phi (Author) , Horslen, Simon (Author) , Camarata, Michelle (Author) , Coskun, Ayse K. (Author) , Houwen, Roderick H. J. (Author) , Pop, Tudor L. (Author) , Zoller, Heinz (Author) , Yoo, Han-wook (Author) , Jung, Sung Won (Author) , Weiss, Karl Heinz (Author) , Schilsky, Michael L. (Author) , Ferenci, Peter (Author) , Hahn, Si Houn (Author)
Format: Article (Journal)
Language:English
Published: 25 February 2021
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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Summary: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.
Item Description:Gesehen am 07.09.2022
Physical Description:Online Resource
ISSN:1528-0012
DOI:10.1053/j.gastro.2021.02.052