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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Autori principali:	Collins, Christopher (Autore) , Yi, Fan (Autore) , Dayuha, Remwilyn (Autore) , Duong, Phi (Autore) , Horslen, Simon (Autore) , Camarata, Michelle (Autore) , Coskun, Ayse K. (Autore) , Houwen, Roderick H. J. (Autore) , Pop, Tudor L. (Autore) , Zoller, Heinz (Autore) , Yoo, Han-wook (Autore) , Jung, Sung Won (Autore) , Weiss, Karl Heinz (Autore) , Schilsky, Michael L. (Autore) , Ferenci, Peter (Autore) , Hahn, Si Houn (Autore)
Natura:	Article (Journal)
Lingua:	inglese
Pubblicazione:	25 February 2021
In:	Gastroenterology Year: 2021, Volume: 160, Fascicolo: 7, Pages: 2367-2382.e1
ISSN:	1528-0012
DOI:	10.1053/j.gastro.2021.02.052
Accesso online:	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
Note sull'autore:	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