Expanding the Diagnostic Toolkit of Wilson Disease with ATP7B Peptides

被引:4
作者
Medici, Valentina [1 ]
机构
[1] Univ Calif Davis, Dept Internal Med, Div Gastroenterol & Hepatol, Sacramento, CA 95817 USA
关键词
COPPER;
D O I
10.1053/j.gastro.2021.03.025
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
引用
收藏
页码:2249 / +
页数:113
相关论文
共 15 条
  • [1] Outcomes of Acute Liver Injury in Adults Due to Wilson's Disease: Is Survival Without Transplant Possible?
    Camarata, Michelle A.
    Gottfried, Michelle
    Rule, Jody A.
    Ala, Aftab
    Lee, William M.
    Todd Stravitz, R.
    Schilsky, Michael L.
    [J]. LIVER TRANSPLANTATION, 2020, 26 (03) : 330 - 336
  • [2] Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease
    Collins, Christopher J.
    Yi, Fan
    Dayuha, Remwilyn
    Duong, Phi
    Horslen, Simon
    Camarata, Michelle
    Coskun, Ayse K.
    Houwen, Roderick H. J.
    Pop, Tudor L.
    Zoller, Heinz
    Yoo, Han-Wook
    Jung, Sung Won
    Weiss, Karl H.
    Schilsky, Michael L.
    Ferenci, Peter
    Hahn, Si Houn
    [J]. GASTROENTEROLOGY, 2021, 160 (07) : 2367 - +
  • [3] Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease
    Czlonkowska, Anna
    Rodo, Maria
    Wierzchowska-Ciok, Agata
    Smolinski, Lukasz
    Litwin, Tomasz
    [J]. LIVER INTERNATIONAL, 2018, 38 (10) : 1860 - 1866
  • [4] Diagnosis and phenotypic classification of Wilson disease
    Ferenci, P
    Caca, K
    Loudianos, G
    Mieli-Vergani, G
    Tanner, S
    Sternlieb, I
    Schilsky, M
    Cox, D
    Berr, F
    [J]. LIVER INTERNATIONAL, 2003, 23 (03) : 139 - 142
  • [5] Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease
    Ferenci, Peter
    Stremmel, Wolfgang
    Czlonkowska, Anna
    Szalay, Ferenc
    Viveiros, Andre
    Staettermayer, Albert Friedrich
    Bruha, Radan
    Houwen, Roderick
    Pop, Tudor Lucian
    Stauber, Rudolf
    Gschwantler, Michael
    Pfeiffenberger, Jan
    Yurdaydin, Cihan
    Aigner, Elmar
    Steindl-Munda, Petra
    Dienes, Hans-Peter
    Zoller, Heinz
    Weiss, Karl Heinz
    [J]. HEPATOLOGY, 2019, 69 (04) : 1464 - 1476
  • [6] Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease
    Guillaud, Olivier
    Brunet, Anne-Sophie
    Mallet, Isabelle
    Dumortier, Jerome
    Pelosse, Martine
    Heissat, Sophie
    Rivet, Christine
    Lachaux, Alain
    Bost, Muriel
    [J]. LIVER INTERNATIONAL, 2018, 38 (02) : 350 - 357
  • [7] Diverse Functional Properties of Wilson Disease ATP7B Variants
    Huster, Dominik
    Kuehne, Angelika
    Bhattacharjee, Ashima
    Raines, Lily
    Jantsch, Vanessa
    Noe, Johannes
    Schirrmeister, Wiebke
    Sommerer, Ines
    Sabri, Osama
    Berr, Frieder
    Moessner, Joachim
    Stieger, Bruno
    Caca, Karel
    Lutsenko, Svetlana
    [J]. GASTROENTEROLOGY, 2012, 142 (04) : 947 - U429
  • [8] Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype
    Kluska, Anna
    Kulecka, Maria
    Litwin, Tomasz
    Dziezyc, Karolina
    Balabas, Aneta
    Piatkowska, Magdalena
    Paziewska, Agnieszka
    Dabrowska, Michalina
    Mikula, Michal
    Kaminska, Diana
    Wiernicka, Anna
    Socha, Piotr
    Czlonkowska, Anna
    Ostrowski, Jerzy
    [J]. LIVER INTERNATIONAL, 2019, 39 (01) : 177 - 186
  • [9] Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease
    Merle, Uta
    Eisenbach, Christoph
    Weiss, Karl Heinz
    Tuma, Sabine
    Stremmel, Wolfgang
    [J]. JOURNAL OF HEPATOLOGY, 2009, 51 (05) : 925 - 930
  • [10] Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers
    Mordaunt, Charles E.
    Kieffer, Dorothy A.
    Shibata, Noreene M.
    Czlonkowska, Anna
    Litwin, Tomasz
    Weiss, Karl-Heinz
    Zhu, Yihui
    Bowlus, Christopher L.
    Sarkar, Souvik
    Cooper, Stewart
    Wan, Yu-Jui Yvonne
    Ali, Mohamed R.
    LaSalle, Janine M.
    Medici, Valentina
    [J]. EPIGENETICS & CHROMATIN, 2019, 12 (1)