Excerpt | Reference |
"Wilson's disease is an autosomal recessive disorder characterized by an accumulation of a toxic amount of copper in the body." | ( Hashimoto, T; Morita, J; Motohiro, T; Okano, Y; Watari, H; Yamashita, F; Yoshida, I; Yoshino, M, 1992) |
"Wilson's disease is an infrequent entity." | ( Blasco, A; Castellano, G; Colina, F; Domínguez, P, 1992) |
"Wilson disease is due to a genetically determined impairment of copper excretion from liver into bile resulting in copper overload of the organism." | ( Stremmel, W, 1992) |
"Wilson's disease is a disorder of hepatobiliary copper excretion manifested predominantly by hepatic and neurologic copper toxicosis and inherited in an autosomal recessive pattern." | ( Friedman, LS; Martin, P; Muñoz, SJ; Yarze, JC, 1992) |
"Wilson's disease is named after Kinnier Wilson (1878-1937), a famous British neurologist." | ( McIntyre, N, 1991) |
"Zinc therapy in Wilson's disease is a lifelong treatment to prevent reaccumulation of copper." | ( Brewer, GJ; Johnson, V; Yuzbasiyan-Gurkan, V, 1991) |
"The gene for Wilson's disease is on chromosome 13, close to the retinoblastoma locus." | ( Brewer, GJ; Lee, DY; Yuzbasiyan-Gurkan, V, 1990) |
"If untreated, Wilson's disease is fatal." | ( Colón, VF; Woods, SE, 1989) |
"Wilson's disease is characterized by accumulation of copper and D-penicillamine favors its elimination." | ( Baccarani Contri, M; Galassi, G; Hayek, J; Pasquali Ronchetti, I; Quaglino, D, 1989) |
"Wilson's disease is a rare genetic disorder of copper metabolism with autosomal recessive inheritance." | ( Bunke, H; Cario, WR; Schneider, M, 1989) |
"Wilson's disease is a rare genetic disorder in which copper accumulates in tissues." | ( Carr, JC; Ferraro, EF; McGuiness, JW; McInnes-Ledoux, PM, 1987) |
"Wilson's disease is a rare inherited disorder of copper (Cu) metabolism characterized by the deposition of Cu in the liver, brain, and cornea." | ( Cherian, MG; Frei, JV; Nartey, NO, 1987) |
"Wilson's disease is an autosomal recessive disorder in which copper accumulates, if untreated, in liver and subsequently in brain and kidney." | ( Prohaska, JR, 1986) |
"Wilson's disease is an inborn error of copper metabolism, characterised by raised liver-copper concentrations and low serum levels of copper and caeruloplasmin." | ( Epstein, O; Sherlock, S, 1981) |
"Most patients with Wilson's disease are treated with the potentially toxic cupriuretic agent penicillamine." | ( Hoogenraad, TU; Van den Hamer, CJ; Van Hattum, J, 1984) |
"Wilson's disease is an inherited disorder of copper accumulation that is fatal if untreated." | ( Brewer, GJ; Cossack, ZT; Hill, GM; Prasad, AS; Rabbani, P, 1983) |
"Although Wilson's Disease is a treatable disorder, 9 of 15 cases referred with undiagnosed liver disease in the present series died in 3 to 53 days of admission." | ( Ede, RJ; Mowat, AP; Nazer, H; Williams, R, 1983) |
"Wilson's disease is a rare inherited disorder of copper metabolism causing severe damage to vital organs." | ( Braunsteiner, H; Finkenstedt, G, 1981) |
"Wilson's disease is an autosomal recessive disorder characterized by progressive cirrhosis or neurological signs." | ( Berg, M; Haslam, RH; Sass-Kortsak, A; Stout, W, 1980) |
"Wilson's disease is an autosomal recessive, inherited disorder of copper metabolism." | ( Cuthbert, JA, 1995) |
"Wilson disease is an autosomal recessive copper storage disease resulting from an inability of the liver to excrete copper." | ( Berger, R; Hoogenraad, TU; Houwen, RH; Juyn, J; Ploos van Amstel, JK, 1995) |
"Wilson disease is a disorder of copper transport, resulting in neurological and hepatic damage due to copper toxicity." | ( Cox, DW; Roberts, EA; Thomas, GR; Walshe, JM, 1995) |
"Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism." | ( Ammermann, C; Klein, M; Marcus, A; Schmidt, MH, 1995) |
"Menkes disease and Wilson disease are human disorders of copper metabolism." | ( Andrews, NC; Lin, W; Trenor, C, 1994) |
"Wilson disease is an autosomal recessive disorder of copper transport." | ( Chernov, I; Gilliam, TC; Kaplan, JH; Lutsenko, S; Petrukhin, K; Ross, BM, 1994) |
"Wilson's disease is an hereditary recessive autosomal disorder which affects around five people per million inhabitants." | ( Bisbocci, D; Gallo, V; Riva, P; Sidoli, L, 1994) |
"Wilson's disease is a lethal defect in copper metabolism causing a continual increase in tissue copper concentrations that become toxic to the liver, brain, kidney, eye, skeletal system, and several other tissues and organs." | ( Feichtinger, H; Judmaier, G; Propst, A; Propst, T; Vogel, W; Willeit, J, 1995) |
"Wilson's disease is an autosomal recessive disorder of copper metabolism characterized by abnormal copper accumulation in the liver and low serum ceruloplasmin activity." | ( Matsumoto, K; Miura, M; Muramatsu, Y; Sakai, T; Serikawa, T; Suzuki, Y; Tanzi, RE; Yamada, T, 1994) |
"Wilson's disease is a recessively inherited disorder of copper metabolism with prominent hepatic, hematopoietic, central nervous system (CNS), and ocular involvement." | ( Gwirtsman, HE; Henkin, R; Prager, J, 1993) |
"Wilson's disease is an inherited disorder of copper accumulation." | ( Brewer, GJ, 1995) |
"Wilson disease is related to the toxic effects of copper accumulation in liver, which leads to progressive liver damage and subsequent overflow to brain causing a loss of coordination and involuntary movement." | ( Aoki, T; Ozawa, M, 1996) |
"Wilson's Disease is an inherited disorder of copper metabolism." | ( Alarcón, T; Brinck, P; González, M; Miranda, M; Roessler, JL; Troncoso Sch, M; Villagra, R, 1995) |
"Wilson's disease is a rare inherited metabolic disorder usually characterized by liver and/or neurological degeneration." | ( Bascone, F; Bonfissuto, G; Carroccio, A; Costanza, G; Magliarisi, C; Montalto, G; Soresi, M, 1997) |
"Menkes disease and Wilson disease are human disorders of copper transport caused by mutations in distinct genes encoding similar copper-transporting P-type ATPases." | ( Gitschier, J; Kuo, YM; Packman, S, 1997) |
"Wilson's disease is associated with frequent, diverse, and early deletions of mitochondrial DNA." | ( Berson, A; Degott, C; Erlinger, S; Fromenty, B; Gaou, I; Lettéron, P; Mansouri, A; Pessayre, D, 1997) |
"Wilson's disease is an autosomal-recessive inherited disorder that results in predominantly hepatic and neurologic manifestations." | ( Cordato, DJ; Fulham, MJ; Yiannikas, C, 1998) |
"Wilson's disease is a rare, autosomal recessive disorder of copper metabolism due to low serum ceruloplasm, resulting in increased copper deposition, especially in the liver and basal ganglia in the brain." | ( Landgraf, F; Müller, J; Trabert, W, 1998) |
"Wilson disease is an inborn error of copper metabolism that has neurological and hepatic manifestations." | ( Badilla, L; Barrios, A; Bravo, E; Gajewski, C; Miranda, M; Troncoso, M; Villagra, R, 1998) |
"Wilson disease is a genetic disorder of copper metabolism characterized by the toxic accumulation of copper in the liver." | ( Futai, M; Iida, M; Koyama, K; Miura, N; Sambongi, Y; Sugiyama, T; Terada, K; Wakabayashi, T, 1998) |
"Wilson's disease is a genetic disorder of copper metabolism characterized by the excessive accumulation of this metal in the liver." | ( Miura, N; Schilsky, ML; Sugiyama, T; Terada, K, 1998) |
"Wilson's disease is an inherited disease of copper accumulation caused by a failure of biliary excretion of excess copper." | ( Brewer, GJ; Brunberg, JA; Dick, RD; Fink, JK; Johnson, VD; Kluin, KJ, 1998) |
"Wilson disease is an autosomal recessive disorder of copper metabolism." | ( Chang, JG; Jong, YJ; Lee, CC; Lin, SP; Lo, MC; Tsai, CH; Tsai, FJ; Wu, JY; Yang, CF, 1998) |
"Wilson disease is an autosomal recessive disorder of copper transport that causes hepatic and/or neurological disease resulting from copper accumulation in the liver and brain." | ( Cox, DW; Forbes, JR, 1998) |
"Wilson's disease is an autosomal recessive disorder of copper accumulation in various organs, with most common clinical manifestations such as hepatic, neurological, and renal dysfunctions." | ( Kaur, G; Prasad, R; Walia, BN, 1998) |
"Wilson's disease is effectively treated by zinc administration which, in vitro, increases metallothionein concentrations." | ( Albergoni, V; D'Incà, R; Irato, P; Longo, G; Mestriner, C; Sturniolo, GC, 1999) |
"Wilson's disease is an inherited disorder of copper metabolism characterized by hepatic cirrhosis and neuronal degeneration." | ( Failla, ML; Gitlin, JD; Hopkins, RG; Schaefer, M, 1999) |
"Wilson disease is a copper storage disease with autosomal-recessive trait that is predominantly a disorder of the adolescent and young adult." | ( Smolarek, C; Stremmel, W, 1999) |
"Wilson's disease is a rare autosomal recessive inherited disorder of copper metabolism." | ( Lynn, DJ; Pfeil, SA, 1999) |
"Menkes disease and Wilson disease are inherited disorders of copper metabolism and the dramatic neurodegenerative phenotypes of these two diseases underscore the essential nature of copper in nervous system development as well as the toxicity of this metal when neuronal copper homeostasis is perturbed." | ( Bartnikas, TB; Gitlin, JD; Waggoner, DJ, 1999) |
"Wilson's disease is an autosomal recessive disorder related to the copper metabolism." | ( Aoki, T; Shimizu, N; Yamaguchi, Y, 1999) |
"Wilson's disease is an autosomal-recessive disorder of copper metabolism that results from the absence or dysfunction of a copper-transporting P-type adenosine triphosphatase that leads to impaired biliary copper excretion and disturbed holoceruloplasmin synthesis." | ( Hofmann, WJ; Kuipers, F; Müller, M; Roelofsen, H; Schaefer, M; Stremmel, W; Vonk, RJ; Wolters, H, 1999) |
"Wilson's disease is a relatively rare inherited disorder of copper accumulation and toxicity, caused by a defect in an enzyme that is part of the pathway of biliary excretion of excess copper." | ( Brewer, GJ, 2000) |
"Wilson's disease is a rare but treatable condition that often presents diagnostic dilemmas." | ( Angus, PW; Gow, PJ; Sewell, RB; Smallwood, RA; Smith, AL; Wall, AJ, 2000) |
"Wilson disease is a genetic disorder of copper transport resulting in the accumulation of copper in organs such as liver and brain which leads to progressive hepatic and neurological damage." | ( Sarkar, B, 2000) |
"Wilson's disease is a genetic disorder characterized by the accumulation of copper in the body due to a defect of biliary copper excretion." | ( Baba, S; Furuta, K; Hanada, S; Harada, M; Kawaguchi, T; Kimura, R; Koga, H; Kumashiro, R; Sakisaka, S; Sata, M; Sugiyama, T; Taniguchi, E, 2000) |
"Wilson's disease is an autosomal recessive disorder of copper metabolism resulting from the absence or dysfunction of a copper transporting P-type ATPase encoded on chromosome 13." | ( Gitlin, JD; Loudianos, G, 2000) |
"Wilson disease is an autosomal recessive copper transport disorder resulting from defective biliary excretion of copper and subsequent hepatic copper accumulation and liver failure if not treated." | ( Firth, SD; Gould, R; La Fontaine , S; Mercer, JF; Parton, RG; Theophilos, MB, 2001) |
"Wilson's disease is an inherited disorder of copper transport in the organism, transmitted in autosomal recessive fashion." | ( Chepileva, KG; Grudeva-Popova, JG; Spasova, MI; Zaprianov, ZH, 2000) |
"Wilson's disease is an autosomal recessive disorder of copper metabolism characterized mainly by liver cirrhosis and neurological disorders." | ( Bashiri, A; Erez, O; Furman, B; Holcberg, G; Mazor, M; Wiznitzer, A, 2001) |
"Wilson disease is caused by a large number of different mutations in the ATP7B gene." | ( Berr, F; Caca, K; Ferenci, P; Hermann, W; Kühn, HJ; Kunath, B; Mössner, J; Polli, C; Willgerodt, H, 2001) |
"Wilson's disease is an inherited autosomal recessive (AR) disorder of copper metabolism transmitted by a mutant gene on chromosome 13q14-21 and results in abnormal accumulation of copper giving rise to protean manifestations." | ( Jha, DK; Sinha, KK; Sinha, S, 2001) |
"Wilson's disease is characterized by neuropsychiatric symptoms with frequent extrapyramidal and intellectual presentations." | ( Aïdi, S; Benomar, A; Bono, W; Chkili, T; el Alaoui-Faris, M; Moutie, O; Yahyaoui, M, 2002) |
"Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutation of the gene ATP7B leading to toxic copper accumulation in the liver and other organs such as brain, kidney and cornea." | ( Firneisz, G; Hantos, MB; Hegedus, D; Lakatos, PL; Reiczigel, J; Szalay, F; Tekes, K; Török, T, 2002) |
"Wilson disease is an autosomal recessive inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion from hepatocytes." | ( Harada, M, 2002) |
"Wilson's disease is due to an inherited defect in copper excretion into the bile by the liver." | ( Brewer, GJ; Fink, JK; Hedera, P, 1999) |
"Wilson's disease is an autosomal recessive disorder characterized by decreased biliary copper excretion and reduced copper incorporation into ceruloplasmin." | ( Cabras, AD; Coni, PP; Faa, G; Höfler, H; Nurchi, AM; Serra, S; Weirich, G, 2002) |
"Wilson disease is an inherited autosomal recessive disorder of copper metabolism resulting in pathological accumulation of copper in the liver, brain and other tissues." | ( Aschermann, M; Hlubocká, Z; Kejková, E; Linhart, A; Marecek, Z; Martásek, P; Pospísilová, L, 2002) |
"Wilson disease is an autosomal recessive disorder of copper metabolism." | ( Fatemi, N; Sarkar, B, 2002) |
"Untreated Wilson disease is always fatal." | ( Maier, KP, 2002) |
"Wilson disease is an autosomal recessive disorder, characterized by cooper accumulation and intoxication of the organism." | ( Bzdúch, V; Kopecková, L; Kozák, L; Kupcová, V; Procházková, D; Smolka, V; Suláková, A; Trunecka, P; Vánová, P; Vejvalková, S; Vrábelová, S, 2002) |
"Wilson disease is an autosomal recessive disorder of copper metabolism." | ( Fatemi, N; Sarkar, B, 2002) |
"Wilson's disease is an autosomal recessive human illness in which large quantities of copper accumulate in various organs, including the brain and the liver." | ( Gailer, J; George, GN; Harris, HH; Klein, D; Lichtmannegger, J; Pickering, IJ; Summer, KH, 2003) |
"Wilson disease is an autosomal recessive disorder of copper metabolism." | ( Houwen, RH; Klomp, LW; Ploos van Amstel, JK; Stapelbroek, JM; van den Berg, LH; van Hattum, J, 2003) |
"Wilson's disease is an autosomal recessive disorder caused by mutation of the gene ATP7B leading to toxic copper accumulation mainly in the liver and brain and in other organs such as, kidney and cornea." | ( Hantos, MB; Szalay, F; Tekes, K, 2002) |
"Wilson disease is a rare disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system and the kidneys." | ( El-Youssef, M, 2003) |
"Wilson's disease is an autosomal recessive inherited disorder of hepatic copper metabolism resulting in liver disease and/or neuropsychiatric disease." | ( Ferenci, P, 2004) |
"Wilson's disease is a genetic disorder of copper metabolism with a hepatic or neurologic presentation." | ( Al-Mateen, M; Brewer, GJ; Carlson, MD, 2004) |
"Wilson disease is a severe human disorder characterized by Cu accumulation in the liver as a result of a deficiency in biliary Cu secretion." | ( Klomp, LW; Wijmenga, C, 2004) |
"Wilson disease is a human disorder of copper metabolism resulting in toxic copper accumulation." | ( Reichert, J; Schaefer, M; Stremmel, W; Stuehler, B, 2004) |
"Wilson's disease is an autosomal recessive disorder of hepatic copper metabolism caused by mutations in a gene encoding a copper-transporting P-type ATPase." | ( Correa, G; Lopera, F; Moreno, S; Ramírez-Gomez, L; Rio, MJ; Velez-Pardo, C, 2004) |
"Wilson disease is an autosomal recessive condition of copper metabolism that was once considered fatal." | ( Ala, A; Schilsky, ML, 2004) |
"Wilson's disease is an inherited copper toxicosis caused by defective putative copper transporting ATPase in the liver." | ( Hayashi, H; Suzuki, R; Wakusawa, S, 2004) |
"Wilson disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues." | ( Ferenci, P, 2004) |
"Wilson's disease is an autosomal, recessive-inherited disorder of impaired biliary copper excretion that results in the accumulation of copper in various organs including the liver, the cornea and the brain." | ( Ferenci, P, 1998) |
"Wilson disease is an autosomal, recessive inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion of hepatocytes." | ( Abonyi, M; Folhoffer, A; Lakatos, PL, 2004) |
"Wilson disease is caused by disease-specific mutations of the copper transporting ATPase, ATP7B." | ( Schilsky, ML, 2005) |
"Wilson's disease is a rare autosomal recessive disease of copper accumulation and copper toxicity, due to mutations in the ATP7B gene, which leads to a failure of copper excretion in the bile." | ( Brewer, GJ, 2005) |
"The diagnosis of Wilson's disease is confirmed by decreased serum ceruloplasmin, increased urinary copper, and elevated hepatic copper concentration." | ( Aoki, T, 2005) |
"Wilson disease is a disorder of copper metabolism, due to inherited mutations in the Wilson copper ATPase gene ATP7B." | ( Portmann, R; Solioz, M, 2005) |
"Wilson's disease is a hereditary, autosomal-recessive disease affecting copper excretion." | ( Noble, JA, 2005) |
"Wilson's disease is a rare inborn disease related to copper storage, leading to liver cirrhosis and neuropsychological deterioration." | ( Ferenci, P; Merle, U; Schaefer, M; Stremmel, W, 2007) |
"Wilson's disease is a rare autosomal recessive disorder characterized by the accumulation of copper, mainly in the liver and the brain." | ( Hummel, T; Kitzler, H; Landis, B; Mueller, A; Reichmann, H; Reuner, U, 2006) |
"Wilson's disease is a genetic autosomal-recessive copper deposition disorder often presenting with neurologic or hepatic symptoms." | ( Berg, CL; Lee, VD; Northup, PG, 2006) |
"Wilson disease is a copper storage disorder caused by mutations in the ATP7B gene leading to liver cirrhosis." | ( Encke, J; Merle, U; Naldini, L; Stremmel, W; Tuma, S; Volkmann, M, 2006) |
"Wilson disease is an autosomal recessive disorder of copper overload." | ( Chaine, P; Chappuis, P; Favrole, P; Mikol, J; Woimant, F, 2006) |
"Wilson disease is an autosomal recessive inborn error of copper metabolism that leads to neurologic symptoms and variable degrees of hepatic damage." | ( Lin, JJ; Lin, KL; Wang, HS; Wong, MC, 2006) |
"Wilson's disease is a rare autosomal recessive disorder of hepatic copper transport leading to a biliary excretion inhibition of copper." | ( Günther, P; Hermann, W; Kühn, HJ; Wagner, A, 2007) |
"Wilson disease is caused by accumulation of Cu(2+) in cells, which results in liver cirrhosis and, occasionally, anemia." | ( Becker, JU; Eisele, K; Erhardt, A; Gulbins, E; Häussinger, D; Hefter, H; Hildenbrand, S; Huber, SM; Kempe, DS; Klarl, BA; Koka, S; Lang, F; Lang, PA; Lupescu, A; Mann, K; Nicolay, JP; Rübben, H; Schenck, M; Schmid, KW; Wieder, T, 2007) |
"Wilson disease is an autosomal recessive disorder of copper metabolism that leads to the accumulation of copper mainly in the liver, cornea, brain, and kidney." | ( Jhang, JS; Lefkowitch, JH; Schilsky, ML; Schwartz, J, 2007) |
"Wilson disease is an inherited, autosomal recessive, copper accumulation and toxicity disorder that affects about 30 individuals per million." | ( Medici, V; Rossaro, L; Sturniolo, GC, 2007) |
"Wilson disease is an autosomal recessive disorder of copper metabolism in which copper is deposited in the brain and liver." | ( Bhattacharya, SK; Bimal, S; Das, P; Das, VN; Kumar, N; Lal, CS; Pandey, K; Singh, D; Sinha, PK; Topno, RK; Verma, N; Verma, RB, 2007) |
"Wilson's disease is an autosomal recessive disorder of copper metabolism resulting from the dysfunction of a copper transporting P-type ATPase encoded on chromosome 13." | ( Hydzik, P; Kosowski, B; Lech, T, 2007) |
"Wilson's disease is a genetically determined disorder of copper metabolism in the liver." | ( Dejneka, W; Jabłońska-Kaszewska, I; Kiszkis, H; Lubińska, M; Lukasiak, J; Swiatkowska-Stodulska, R; Sworczak, K; Wiśniewski, P, 2007) |
"Acquired chronic hepatocerebral degeneration is a central nervous system disorder secondary to several conditions related to hepatic dysfunction." | ( Boukas, K; Papapetropoulos, S; Reddy, C; Sengun, C; Singer, C; Tzakis, A; Zitser, J, 2008) |
"Wilson's disease is an inherited, autosomal recessive disorder of copper accumulation and toxicity." | ( Chiba, M; Hirano, T; Iseki, K; Itagaki, S; Kobayashi, M, 2007) |
"Wilson's disease is characterized by longterm hepatic accumulation of copper leading to liver disease with reduction of S-adenosylmethionine synthesis." | ( Delgado, M; Garrido, F; Pajares, MA; Pérez-Miguelsanz, J; Pérez-Sala, D; Rodríguez-Tarduchy, G, 2008) |
"Wilson's disease is an autosomal recessive disorder of copper metabolism." | ( Lam, CW; Mak, CM, 2008) |
"Wilson disease is an inherited disorder of human copper metabolism, characterized by gradual accumulation of copper in tissues, predominantly liver and brain." | ( Füllekrug, J; Gotthardt, D; Merle, U; Stremmel, W; Weiss, KH; Wurz, J, 2008) |
"Wilson disease is one of the commonest inherited and potentially fatal yet treatable liver disorders." | ( Hui, Y; Lai, ST; Lam, CW; Mak, CM; Tam, S, 2008) |
"Wilson's disease is an infrequent, autosomic recessive pathology, resulting from a loss of function of an adenosine triphosphatase (ATP7B or WDNP), secondarily to a change (more than 60 are described currently), insertion or deletion of the ATP7B gene located on the chromosome 13q14." | ( Abaoub-Germain, A; Benhamla, T; Theodore, F; Tirouche, YD, 2007) |
"Wilson's disease is a rare genetic disorder of copper metabolism with a hepatic or neurological presentation." | ( Krysiak, R; Okopień, B, 2008) |
"Wilson's disease is a severe human disorder of copper homoeostasis." | ( Lutsenko, S, 2008) |
"Wilson's disease is a human genetic disorder which results in copper accumulation in liver and brain." | ( George, GN; Lichtmannegger, J; Pickering, IJ; Summer, KH; Webb, S; Zhang, L, 2009) |
"Wilson's disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper." | ( Palumbo, E, 2008) |
"Wilson disease is a relatively rare inherited disorder of copper accumulation and toxicity, caused by a defect in an enzyme that is part of the pathway of biliary excretion of excess copper." | ( Biswas, B; Mallick, D; Thapa, R, 2009) |
"Wilson's disease is also known to cause bone loss independent of liver dysfunction." | ( Boldo, A; Taxel, P, 2009) |
"Wilson disease is a disorder of copper metabolism characterized by copper overload." | ( Bahador, A; Dehghani, M; Dehghani, SM; Geramizadeh, B; Kakaei, F; Kazemi, K; Malek-Hosseini, SA; Nikeghbalian, S; Reza Nejatollahi, SM; Salahi, H, 2008) |
"Wilson's disease is a rare genetic illness of copper metabolism, which leads to copper-overload in mitochondria and organ damage, especially to the liver." | ( Fryer, MJ, 2009) |
"Wilson's disease is a rare inherited disorder of copper metabolism." | ( Jung, HH; Ramseier, SP, 2010) |
"Wilson disease is a rare disorder and few studies exist on diagnosis and natural history." | ( Frenette, C; Gish, R; Schilsky, M; Wong, RJ, 2011) |
"Wilson disease is a genetic disorder associated with copper overload due to mutations within the ATP7B gene." | ( Gehrke, SG; Herrmann, T; Merle, U; Muntean, V; Stremmel, W; Tuma, S; Volkmann, M, 2010) |
"Wilson's disease is a disorder of the liver's copper metabolism." | ( Mäkisalo, H; Moilanen, V, 2010) |
"Wilson's disease is a rare autosomal recessive disorder of copper transport due to mutations in the ATP7B gene, responsible for transport of copper into bile from hepatocytes and its incorporation into apoceruloplasmin to form ceruloplasmin resulting in excessive accumulation of copper in the liver and extrahepatic tissues." | ( Behari, M; Pardasani, V, 2010) |
"Wilson's disease is caused by a P-type ATP-ase gene mutations with reduced biliary copper excretion and accumulation copper in the liver and other tissues." | ( Raszeja-Wyszomirska, J; Starzyńska, T; Ławniczak, M, 2010) |
"Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a copper-transporting adenosine triphosphatase." | ( Hsu, CM; Hsu, YA; Huang, CC; Lee, CC; Liao, CC; Lin, WD; Liu, SC; Tsai, CH; Tsai, FJ; Wan, L; Wu, CC; Yang, CC, 2010) |
"Wilson disease is an inherited autosomal recessive disorder of copper balance leading to hepatic damage and neurological disturbance of variable degree." | ( Huster, D, 2010) |
"Wilson disease is an autosomal recessive disorder with copper metabolism." | ( Aoki, T; Fujisawa, T; Fujiwara, J; Harada, M; Horiike, N; Ida, S; Inui, A; Ito, M; Itoh, S; Kodama, H; Kohsaka, T; Ohnishi, S; Sato, M; Shimizu, N; Tamai, H; Yoshino, M, 2010) |
"Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival." | ( Barbosa, ER; Bem, RS; Deguti, MM; Muzzillo, DA; Teive, HA; Werneck, LC, 2011) |
"Wilson's disease is a genetic disease caused by mutations in the ATP7B gene, whose product is a liver transporter protein responsible for coordinated copper export into bile and blood." | ( Chen, S; Chen, Y; Esteban, MA; Guo, X; Li, W; Liu, X; Lu, H; Pan, Q; Pei, D; Schambach, A; Tortorella, MD; Wang, Y; Xu, J; Zhang, S; Zhao, P; Zychlinski, D, 2011) |
"Wilson disease is a genetic disorder characterized by accumulation of copper in the body." | ( Abe, S; Harada, M; Harada, R; Hiura, M; Honma, Y; Matsuhashi, T; Miyagawa, K; Shibata, M; Tabaru, A, 2011) |
"Wilson's disease is characterized by copper toxicity that typically affects the hepatic and nervous systems severely." | ( Bhadhprasit, W; Fujisawa, C; Kodama, H, 2012) |
"Wilson disease is an autosomal recessive disorder of copper transport characterized by toxic accumulation of copper in the liver, brain, and other organs." | ( Bennett, J; Hahn, SH, 2011) |
"Wilson disease is the most well-characterized disorder of disordered copper metabolism." | ( Johncilla, M; Mitchell, KA, 2011) |
"Wilson's disease is caused by a genetic defect in P-type Cu(2+)-ATPase (Atp7b), resulting in Cu(2+) accumulation in the liver, toxicity, and hepatocellular carcinoma." | ( Sheline, CT, 2011) |
"Wilson disease is an inherited autosomal recessive disorder causing copper accumulation and consequent toxicity." | ( Huang, L; Jiao, X; Liu, X; Yu, X; Zhang, J; Zhang, Y, 2012) |
"In man, Wilson's disease is the best studied disorder of copper overload, resulting from mutations in the gene coding for the copper transporter ATP7B." | ( Fieten, H; Leegwater, PA; Rothuizen, J; Watson, AL, 2012) |
"Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase." | ( Berr, F; Bhattacharjee, A; Caca, K; Huster, D; Jantsch, V; Kühne, A; Lutsenko, S; Mössner, J; Noe, J; Raines, L; Sabri, O; Schirrmeister, W; Sommerer, I; Stieger, B, 2012) |
"Wilson disease is an autosomal recessive disease that produces a copper accumulation in many organs, initially in the liver, progressing to liver cirrhosis, and in the brain, with different neurologic symptoms." | ( Bost, M; Broussolle, E; Brunet, AS; Des Portes, V; Lachaux, A; Lion-François, L; Wagner, S, 2012) |
"Wilson's disease is an orphan disease due to copper homeostasis dysfunction." | ( Delangle, P; Mintz, E, 2012) |
"Wilson's disease is an autosomal recessive disorder of copper metabolism." | ( Dong, QQ; Fu, DL; Lin, Y; Lu, L; Wang, XT; Wang, Y; Xie, CL; Zheng, GQ, 2012) |
"Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism,characterized by copper accumulation in the liver and brain." | ( Catalina Rodríguez, MV; Clemente Ricote, G; Ibáñez Samaniego, L; Ochoa Palominos, A; Pajares Díaz, J, 2013) |
"Wilson disease is a genetic copper storage disorder that causes hepatic and neurologic symptoms." | ( Ferenci, P; Ferenci-Foerster, D; Gotthardt, DN; Hefter, H; Houwen, RH; Maieron, A; Merle, U; Reuner, U; Schäfer, M; Schmidt, HH; Stauber, R; Stremmel, W; Teufel, U; Thurik, F; Trocello, JM; Weiss, KH; Wiegand, F; Zoller, H, 2013) |
"As Wilson's disease is both preventable and treatable, the diagnosis must not be missed." | ( Lorincz, MT, 2012) |
"Wilson's disease is a rare autosomal recessive disease characterised by the deposition of copper in the brain, liver; cornea, and other organs." | ( Purchase, R, 2013) |
"Wilson disease is a hereditary disorder caused by mutations of the ATP7B gene, which leads to intoxication with copper as a result of an unbalance of copper homeostasis." | ( Arcaya, JL; Salazar, U; Silva, EJ; Tejeda, CM; Urdaneta, K; Varela, K, 2013) |
"Wilson's disease is a rare, autosomal recessive inherited disorder characterized by impaired liver metabolism of copper leading to decreased biliary excretion and incorporation of ceruloplasmin levels mainly in the liver and brain." | ( Khawaja, A; Malik, A; Sheikh, L, 2013) |
"Wilson's disease is one of a number of copper-related disorders where loss of copper homeostasis as a result of genetic, nutritional or environmental factors affects human health." | ( Purchase, R, 2013) |
"Wilson's disease is a rare, inherited, autosomal recessive disorder of copper metabolism which leads to an accumulation of copper in body tissues." | ( Bellapart, J; Boots, RJ; Leggett, BA; Reynolds, HV; Talekar, CR, 2014) |
"Wilson's disease is an autosomal recessive disease caused by mutations on the ATP7B gene found on chromosome 13." | ( Delangle, P; Gateau, C, 2014) |
"At present, Wilson's disease is the best-described and best-studied copper-storage disorder in humans; it is caused by mutations in the ATP7B gene." | ( Bartuzi, P; Fedoseienko, A; van de Sluis, B, 2014) |
"Wilson's disease is an autosomal recessive disorder of copper transport caused by mutations in the gene encoding an ATPase, ATP7B." | ( Hahn, SH, 2014) |
"Wilson's disease is an autosomal recessively inherited copper overload disorder that leads to hepatic and/or neurologic symptoms." | ( Stremmel, W; Weiss, KH, 2014) |
"Wilson's disease is a genetic disorder caused by a malfunction of ATPase 7B that leads to high accumulation of copper in the organism and consequent toxic effects." | ( Hrubý, M; Kučka, J; Mattová, J; Nový, Z; Petřík, M; Poučková, P; Skodová, M; Stěpánek, P; Urbánek, P; Vetrík, M, 2014) |
"Wilson disease is an autosomal recessive disorder resulting in copper accumulation in the liver and the central nervous tissue." | ( Didion, C; Gotthardt, DN; Schaefer, M; Stremmel, W; Weiss, KH, 2015) |
"Wilson's disease is an inherited autosomal recessive disorder of copper metabolism." | ( Chabik, G; Członkowska, A; Dzieżyc, K; Gramza, K; Litwin, T, 2014) |
"Early diagnosis of Wilson's disease is crucial to ensure that patients can be started on adequate treatment, but uncertainty remains about the best possible choice of medication." | ( Bandmann, O; Kaler, SG; Weiss, KH, 2015) |
"Wilson disease is an infrequent autosomal recessive disorder caused by mutations in the ATP7B gene (13q14." | ( Arias, S; De Freitas, L; Paradisi, I, 2015) |
"Wilson disease is an inherited disorder of excessive copper accumulation." | ( Chen, DB; Feng, L; Hou, HM; Li, XH; Liu, JX; Wei, LT; Wu, C; Zhang, JW, 2015) |
"Wilson's disease is typically manifested in two clinical forms, neurological and hepatic and in rare cases it starts with psychiatric symptoms exclusively." | ( Antonijević, J; Krstić, D; Špirić, Ž, 2014) |
"Wilson's disease is an autosomal recessive disorder in which the liver does not properly release copper into bile, resulting in prominent copper accumulation in various tissues." | ( Boaru, SG; Eder, E; Ferenci, P; Flechtenmacher, C; Merle, U; Stremmel, W; Uerlings, R; Weiskirchen, R; Willheim, C; Zimmermann, A, 2015) |
"Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2+) transporting polypeptide (ATP7B) gene." | ( Bézieau, S; Blouin, E; De Bruyne, R; Küry, S; Schmitt, S; Van Biervliet, S; Vanakker, OM; Vande Velde, S, 2015) |
"Wilson disease is an autosomal recessive disorder of abnormal copper accumulation in the liver, brain, kidney and cornea, resulting in hepatic and neurological abnormalities, which results from impaired ATP7B protein function due to mutations in candidate ATP7B gene, till date more than 500 disease causing mutations were found." | ( Guggilla, SR; Madireddi, S; Rao, PN; Senagari, JR, 2015) |
"Wilson disease is an autosomal recessive disorder of copper metabolism that can cause fatal neurological and hepatic disease if not diagnosed and treated." | ( Abuduxikuer, K; Li, LT; Qiu, YL; Wang, JS; Wang, NL, 2015) |
"Wilson's disease is an inherited disorder of copper transport in the hepatocytes with a wide range of genotype and phenotype characteristics." | ( Amvrosiadou, M; Christopoulos, TK; Ioannou, PC; Kanavakis, E; Petropoulou, M; Poulou, M; Tzetis, M, 2015) |
"Wilson's disease is an inborn error of copper metabolism caused by a mutation in the copper transporting gene ATP7B, and traditional treatment is based on copper chelation with agents such as D-penicillamine." | ( Cho, H; Lee, ST; Lee, Y, 2016) |
"Wilson disease is characterized by massive copper overload caused by a mutation of the liver-specific copper-transporting ATPase, ATP7B." | ( Erlinger, S, 2016) |
"Wilson disease is a rare genetic disease with clinical and histopathologic differential diagnostic challenges." | ( Akpolat, N; Karadag, N; Samdanci, E; Selimoglu, A; Tolan, K; Yilmaz, S, 2017) |
"Wilson disease is not just a disease of children and young adults, but may present at any age." | ( Ferenci, P, 2017) |
"Wilson disease is an autosomal-recessive copper overload disorder causing hepatic and neurologic symptoms." | ( Rupp, C; Stremmel, W; Weiss, KH, 2017) |
"Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper." | ( Brůha, R; Dušek, P; Scheiber, IF, 2017) |
"Wilson's disease is characterised by deposition of copper in various tissues of the body, most markedly in the liver and the brain." | ( Muneer, A, 2016) |
"Wilson's disease is a well-known leading cause of chronic liver disease in children." | ( Patra, PK, 2017) |
"Wilson's disease is a rare genetic but treatable metabolic disorder which has a favorable prognosis when diagnosed early and treated adequately." | ( Hermann, W; Huster, D, 2018) |
"Wilson disease is a rare hereditary disorder of copper metabolism." | ( Huster, D, 2018) |
"Wilson disease is an autosomal recessive genetic disorder caused by loss-of-function mutations in the P-type copper ATPase, ATP7B, which leads to toxic accumulation of copper mainly in the liver and brain." | ( Bragina, O; Järving, I; Kabin, E; Palumaa, P; Plitz, T; Smirnova, J; Tõugu, V, 2018) |
"Wilson's disease is a genetic disorder that causes excessive accumulation of copper in the body, leading to toxic damage, especially in the liver and nervous system." | ( Brus, J; Eigner-Henke, S; Hruby, M; Kucka, J; Kukackova, O; Mackova, H; Mattova, J; Pouckova, P; Sedlacek, O; Sefc, L; Stepanek, P; Vetrik, M, 2018) |
"Wilson disease is a rare genetic disorder in which impaired copper excretion results in toxic copper levels and tissue damage." | ( Bjartmar, C; Bring, J; Członkowska, A; Dzieżyc, K; Karliński, M; Litwin, T, 2018) |
"Wilson's disease is a rare cause of secondary Immunoglobulin A nephropathy." | ( Gocho, Y; Maeda, T; Ogawa, Y; Shimamura, Y; Takizawa, H; Tsuji, K, 2019) |
"Wilson's disease is a copper toxicosis characterized by an overload in tissue copper (mainly hepatic, cerebral and pericorneal)." | ( Hajare, Q; Mehdi, K, 2018) |
"Neurologic Wilson disease is an inherited disease characterized by a copper metabolic disorder that causes damage to many organs, especially the brain." | ( Gao, S; Han, YZ; Yang, RM; Yu, XE, 2019) |
"Wilson's disease is an autosomal recessive hereditary metabolic disease with a pathological accumulation of copper in tissues." | ( Hódos, M; Módis, L; Sohajda, Z, 2019) |
"Wilson disease is a rare genetic disease causing pathologic deposition of copper in the liver, brain, cornea, kidney, and cardiac muscles." | ( de Castillo, LLC; Dioquino, CPC; Porlas, RV, 2018) |
"Wilson's disease is a rare genetic disease of copper metabolism that leads to increased accumulation of copper in the body." | ( Bigdon, E; Feuerstacke, J; Spitzer, M; Steinhorst, NA, 2020) |
"Wilson disease is an autosomal recessive disorder based on inborn error of copper metabolism." | ( Shimizu, N, 2019) |
"Wilson's disease is a rare cause of acute liver failure and is highly fatal without liver transplantation." | ( Bağ, HGG; Güngör, Ş; Selimoğlu, MA; Varol, FI, 2020) |
"Wilson disease is associated with excessive copper accumulation in cells, primarily in the liver and brain." | ( Ma, Q; Reiter, RJ; Sharma, R, 2019) |
"Wilson disease is a rare genetic disorder of copper metabolism with a wide range of clinical presentations." | ( Dalekos, GN; Deutsch, M; Gabeta, S; Gatselis, NK; Koskinas, J; Koullias, E; Manesis, E; Saitis, A; Savvanis, S; Tampaki, M, 2020) |
"Wilson's disease is an autosomal recessive disease characterized by excess copper accumulated in the liver and brain." | ( Gong, L; Li, Y; Li, Z; Mi, X; Shi, J; Yan, J; Yang, W; Zheng, J; Zhuang, Z, 2020) |
"Wilson disease is an autosomal recessive disorder that impairs copper homeostasis and is caused by homozygous or compound heterozygous mutations in ATP7B, which encodes a copper-transporting P-type ATPase." | ( Chen, YC; Dong, Y; Ni, W; Wang, RM; Wu, ZY; Xie, JJ; Xu, WQ; Yang, GM; Yu, H; Zhang, Y, 2021) |
"Wilson's disease is a congenital disorder of copper metabolism whose pathogenesis remains, at least in part, unknown." | ( Cappai, R; Eyken, PV; Faa, G; Fanni, D; Gerosa, C; Manchia, M; Mureddu, M; Nurchi, VM; Saba, L, 2021) |
"Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene." | ( Espinós, C; Garay-Sánchez, P; García-Villarreal, L; González, JM; González-Santana, D; Hernández-Ortega, A; Monescillo, A; Moreno-Pérez, R; Olmo-Quintana, V; Peña-Quintana, L; Quiñones, I; Ramírez-Lorenzo, T; Riaño, M; Sánchez-Monteagudo, A; Sánchez-Villegas, A; Tugores, A, 2021) |
"Wilson Disease is kind of an autosomal recessive genetic disease." | ( Fan, JG; Xiao, QQ, 2021) |
"Wilson disease is an inherited copper metabolism disorder." | ( Fujiwara, Y; Fukunaga, S; Higashimori, A; Hosomi, S; Itani, S; Kamata, N; Kitagawa, D; Kuwae, Y; Maruyama, H; Nadatani, Y; Nagami, Y; Nishida, Y; Ohsawa, M; Ominami, M; Otani, K; Taira, K; Tanaka, F; Tanoue, K; Watanabe, T, 2022) |
"Wilson disease is an autosomal recessive disorder in which copper pathologically accumulates primarily within the liver, brain and other tissues." | ( Alam, R; Karim, MB; Rukunuzzaman, M; Sonia, ZF; Yasmin, A, 2022) |
"Wilson disease is an autosomal recessive disease of liver copper metabolism with predominant hepatic and neurological manifestations." | ( Cardoso, H; Garrido, I; Liberal, R; Lopes, S; Macedo, G; Marques, M, 2022) |
"Wilson's disease is an autosomal-recessive disorder of copper metabolism with hepatic, neurological, psychiatric, ophthalmological, haematological, renal, and rheumatological manifestations." | ( Ala, A; Alexander, G; Bandmann, O; Dhawan, A; Dooley, J; Gillett, GT; Griffiths, W; Kelly, D; Marjot, T; McNeill, A; Sharif, A; Shribman, S; Vimalesvaran, S; Warner, TT; Wheater, V, 2022) |
"Wilson's disease is a hereditary disorder of copper metabolism resulting mainly in hepatic, neurological, and psychiatric symptoms." | ( Despotov, K; Klivényi, P; Nagy, I; Pálvölgyi, A; Rajda, C; Vécsei, L, 2022) |
"Wilson's disease is an autosomal recessive disorder, that affects copper metabolism, leading to copper accumulation in the liver, nervous system, and cornea." | ( Abbassi, N; Bedoya, EC; Belmalih, A; Bost, M; Bourrahouat, A; El Hanafi, FZ; Lachaux, A; Sedki, A, 2022) |
"Wilson's disease is a rare condition associated with treatement efficacy, but late diagnosis and stopping treatment can lead to a high mortality rate." | ( Abbassi, N; Bedoya, EC; Belmalih, A; Bost, M; Bourrahouat, A; El Hanafi, FZ; Lachaux, A; Sedki, A, 2022) |
"Wilson disease is multisystemic and the hepatic manifestations are seen more frequently in childhood, whereas neurologic manifestations are more common in adults; presentation may range from subtle changes to end-stage liver disease with or without encephalopathy as well as neuropsychiatric manifestations." | ( Kerkar, N; Rana, A, 2022) |
"Wilson disease is an inherited disorder of copper transport." | ( Ala, A; Cassiman, D; Couchonnal-Bedoya, E; Cury, RG; Czlonkowska, A; D'Hollander, K; D'Inca, R; Denk, G; Dubois, N; Gondim, FAA; Kamlin, COF; Moore, J; Ott, P; Poujois, A; Schilsky, ML; Twardowschy, C; Weiss, KH; Zuin, M, 2022) |
"Wilson's disease is an autosomal recessive hereditary disease characterized by pathological copper accumulation in many organs, with high mortality and disability." | ( Du, J; Huang, Z; Lei, G; Li, J; Li, Y; Liu, R; Lyu, J; Ren, X; Tan, G; Zhang, P; Zhou, C, 2023) |
"Wilson's disease is a rare genetic disorder that affects copper metabolism in the body, leading to excess copper accumulation in various organs, including the liver and brain." | ( Baker, J; Buccoliero, R; Chakraborty, S; Thakur, S, 2023) |
"Wilson's disease is an inherited hepatoneurologic disorder caused by mutations in the copper transporter ATP7B." | ( Deng, C; Gong, L; Li, Y; Li, Z; Mi, X; Shi, J; Song, Y; Yan, J; Yang, W; Zheng, J, 2023) |
"Wilson disease is a rare, autosomal recessive disorder of copper metabolism and can present with neuropsychiatric symptoms secondary to copper accumulation in the brain." | ( Azadi, A; Clarke, AJ; Dunkerton, S; Halmagyi, GM; Thompson, EO; Tisch, S; Worthington, JM; Xie, P, 2023) |
Excerpt | Reference |
"The Leipzig Center for Wilson's Disease in the GDR is charged with the registration and diagnosis of all homozygous Wilson gene carriers, the clarification of all suspected cases, including the heterozygote test, and the co-ordination of long-term treatment." | ( Bachmann, H; Biesold, D; Günther, K; Lössner, J; Ruchholtz, U; Storch, W; Wagner, A, 1979) |
"Patients with symptomatic Wilson's disease had by far the highest excretion of radiocopper in all three time periods which fell after treatment, pro rata with time, as had been found for stable copper." | ( Gibbs, K; Hanka, R; Walshe, JM, 1978) |
"Red cell aplasia developed in a case of Wilson's disease following an increase in D-penicillamine dosage after 14 years' treatment." | ( Gollan, JL; Hoffbrand, AV; Hussein, S; Sherlock, S, 1976) |
"A patient with Wilson disease, under prolonged treatment with penicillamine, developed lesions of elastosis perforans serpiginosa (EPS)." | ( Hukill, PB; Kirsch, N, 1977) |
"Forty-nine children with Wilson's disease under the age of 15 were treated with D-penicillamine for 2 to 15 years." | ( Arima, M; Kitahara, T; Suzuki, Y; Takeshita, K; Yoshino, K, 1977) |
"In a 33-year-old man with Wilson's disease a nephrotic syndrome appeared as a severe complication under penicillamine therapy." | ( Hampel, R; Kallwellis, G; Meng, W, 1976) |
"Heterozygotes for Wilson's disease and patients treated for Wilson's disease had concentrations (12." | ( Frommer, DJ, 1976) |
"Beside, once the diagnosis is made, Wilson's disease can be effectively treated." | ( Cramarossa, L; D'Angelo, D; D'Ascanio, I; Ferri, GB; Piane, E, 1992) |
"In this report, we describe a case of Wilson's disease with pancytopenia and liver cirrhosis for over 4 years, without any specific treatment." | ( Chu, NS; Huang, CC; Huang, HY; Soong, YK, 1991) |
"We describe the first patient with Wilson disease and recurrent abortion who was effectively treated with oral zinc for both conditions." | ( Christiaens, GC; Hoogenraad, TU; Schagen van Leeuwen, JH, 1991) |
"Zinc therapy in Wilson's disease is a lifelong treatment to prevent reaccumulation of copper." | ( Brewer, GJ; Johnson, V; Yuzbasiyan-Gurkan, V, 1991) |
"A newly diagnosed patient with Wilson's disease is reported in whom the only clearly pathological neurophysiological findings before treatment were abnormal electromyographic (EMG) responses evoked by transcranial magnetic brain stimulation." | ( Benecke, R; Britton, TC; Meyer, BU, 1991) |
"Treatment of 9 patients with Wilson's disease was prospectively studied with evoked potentials and magnetic resonance imaging (MRI)." | ( Ferenci, P; Grimm, G; Madl, C; Oder, W; Prayer, L, 1990) |
"Patients with Wilson's disease who present with acute neurological symptoms often become clinically worse when initially treated with penicillamine." | ( Brewer, GJ; Dick, RD; Kluin, KJ; Tankanow, R; Young, AB; Yuzbasiyan-Gurkin, V, 1991) |
"A 30-year-old woman with Wilson's disease was treated with low-dose D-penicillamine." | ( de Leeuw, PW; van den Hamer, CJ; Veen, C, 1991) |
"From 1974 to 1988, 418 cases of Wilson's disease were treated with TCM-WM in our hospital." | ( Yang, R, 1990) |
"Apart from untreated Wilson's disease (n = 3) copper levels higher than 25 mg/100 g dry liver tissue (normal range up to 6 mg/100 g) were measured in chronic active hepatitis B (n = 2), primary biliary cirrhosis (n = 9) and in chronic hepatitis of uncertain origin (n = 3)." | ( Friedrich, K; Schwabe, U, 1990) |
"A 31-year-old man with Wilson's disease, not treated for the past 4 1/2 years, was admitted to hospital with brain concussion after a fall." | ( Bauer, J; Druschky, KF; Hilz, MJ; Neundörfer, B; Schuierer, G, 1990) |
"A patient with Wilson's disease treated with penicillamine developed severe hirsutism." | ( Jeffers, LJ; LeMaire, WJ; Rose, BI, 1990) |
"Eleven patients with newly diagnosed Wilson's disease were treated with zinc acetate as their sole anticopper therapy." | ( Appelman, H; Brewer, GJ; Lee, DY; Yuzbasiyan-Gurkan, V, 1989) |
"Patients with Wilson's disease often have a further increase in hepatic copper when given zinc as an initial treatment, although there is no associated clinical deterioration." | ( Brewer, GJ; Lee, DY; Wang, YX, 1989) |
"If untreated, Wilson's disease is fatal." | ( Colón, VF; Woods, SE, 1989) |
"An 8-year-old boy with an hepatic form of Wilson disease was treated with oral zinc sulphate as the primary and sole therapy." | ( Deganello, A; Marrella, M; Milanino, R; Moretti, U; Ribezzo, G; Tatò, L; Velo, GP, 1989) |
"With regard to the serious character of Wilson's disease and the possibility of effective treatment it is important to rule it out in all cases of obscure hepatopathies, in particular in children and adolescents." | ( Dastych, M; Jezek, P; Snelerová, M, 1989) |
"Twelve patients with Wilson's disease, most of whom had received intensive treatment with penicillamine, were given zinc therapy as their sole medication for copper control." | ( Brewer, GJ; Dick, RD; Hill, GM; Nostrant, TT; Prasad, AS; Sams, JS; Wells, JJ, 1987) |
"We describe a patient with Wilson's disease who presented with neurologic disease, was treated with D-penicillamine, and suffered sudden neurologic deterioration coincident with therapy." | ( Aisen, AM; Brewer, GJ; Hill, GM; Terry, CA, 1987) |
"Seven patients with Wilson's disease, treated with trientine, have been followed during 11 pregnancies." | ( Walshe, JM, 1986) |
"Being a treatable condition, Wilson's Disease, although rare, should always be thought of in patients with haemolysis, liver diseases or extrapyramidal disorders." | ( Chan, HL; Cheah, JS; Guan, R; Gwee, HM; Ng, HS; Seah, CS; Tan, BY; Wong, PK; Yeo, PP, 1986) |
"Untreated Wilson's disease usually causes infertility or abortion, as a result of increased intrauterine copper level." | ( Mathieu, M; Piussan, C, 1985) |
"Oral zinc therapy in Wilson's Disease may be regarded as an alternative to D-Penicillamine treatment when this drug has to be discontinued because of side effects." | ( Dormeyer, HH; Hütteroth, T; Keidl, E; Manns, M; Meyer zum Büschenfelde, KH; Ramadori, G, 1985) |
"A male patient with Wilson's disease developed a hepatocellular carcinoma after treatment for nine years with D-penicillamine." | ( Portmann, B; Wilkinson, ML; Williams, R, 1983) |
"In such cases Wilson's disease must be diagnosed at an early stage for treatment to be effective." | ( Ede, RJ; Larcher, VF; Mowat, AP; Nazer, H; Williams, R, 1983) |
"Most patients with Wilson's disease are treated with the potentially toxic cupriuretic agent penicillamine." | ( Hoogenraad, TU; Van den Hamer, CJ; Van Hattum, J, 1984) |
"5 patients with proven Wilson's disease had clinical examinations and follow-up scans up to 6 years while being under penicillamine treatment." | ( Backmund, H; Ludwig, G; Nix, WA, 1984) |
"The best treatment for fulminant Wilson's disease is prevention by diagnosis in a pre-symptomatic stage and institution of carefully supervised life-long therapy with penicillamine." | ( Kanel, GC; Rector, WG; Redeker, AG; Reynolds, TB; Uchida, T, 1984) |
"Although Wilson's Disease is a treatable disorder, 9 of 15 cases referred with undiagnosed liver disease in the present series died in 3 to 53 days of admission." | ( Ede, RJ; Mowat, AP; Nazer, H; Williams, R, 1983) |
"A patient with Wilson's disease on long-term penicillamine therapy was seen for evaluation and management of chronic persistent debilitating stomatitis, which was subsequently determined to be cytologically and histologically consistent with pemphigus vulgaris." | ( Ballow, M; Eisenberg, E; Krutchkoff, DJ; Tanzer, JM; Wolfe, SH, 1981) |
"In treated Wilson's disease, measurement of urinary copper excretion should be valuable in estimating the degree of removal of copper from the body during therapy." | ( Frommer, DJ, 1981) |
"A 29-year-old woman with Wilson's disease developed dermolytic skin lesions 2 years after initiation of treatment with penicillamine." | ( Bardach, H; Gebhart, W, 1981) |
"A patient with Wilson Disease presenting neurologic signs was treated with d-Penicillamine." | ( Balottin, U; Cecchini, A; Lanzi, G; Ottolini, A, 1981) |
"Treatment of Wilson's disease takes the form of pharmacological, dietary and surgical therapy." | ( Bisbocci, D; Gallo, V; Riva, P; Sidoli, L, 1994) |
"A patient with Wilson's disease who developed elastosis perforans serpiginosa and localized cutis laxa during prolonged treatment with D-penicillamine is described." | ( Amichai, B; Metzker, A; Rotem, A, 1994) |
"To report a case of presymptomatic Wilson's disease in a patient who became severely neurologically disabled after treatment with penicillamine and to discuss alternative initial therapy for such patients." | ( Brewer, GJ; Turkay, A; Yuzbaziyan-Gurkan, V, 1994) |
"In 12 patients with Wilson's disease treated with D-penicillamine (DPA), the regional cerebral metabolic rate of glucose consumption of the lentiform and caudate nucleus was analysed using the 18Fluorodeoxyglucose method and correlated with the clinical symptoms of the patients, the ceruloplasmin level, the serum level of free copper and the 24-h copper excretion." | ( Arendt, G; Feinendegen, LE; Hefter, H; Herzog, H; Kuwert, T; Stremmel, W, 1993) |
"Zinc treatment of Wilson's disease was introduced by Schouwink en 1961 and is still uncommon in France." | ( Accominotti, M; Bona, I; Broussolle, E; Chazot, G; Confavreux, C; Fontanges, T; Neuschwander, P, 1993) |
"A patient with untreated Wilson's disease showed the possibility of fetal liver damage and copper accumulation in the placenta by this disease." | ( Anai, T; Inoue, I; Matsui, N; Miyakawa, I; Oga, M; Yoshimatsu, J, 1993) |
"In addition, Wilson's disease patients quite often take vitamin C in high doses in conjunction with Zn therapy, and there are indications of possible interactions among vitamin C, Zn and copper (Cu)." | ( Brewer, GJ; Dick, RD; Johnson, V; Wang, Y; Yuzbasiyan-Gurkan, V, 1993) |
"Twenty-three patients with Wilson's disease (WD) treated with D-penicillamine underwent clinical examination, as well as laboratory and motor testing." | ( Arendt, G; Freund, HJ; Hefter, H; Stremmel, W, 1993) |
"Mucosal iron concentration increased in Wilson's disease patients whether they were treated with zinc or penicillamine." | ( Albergoni, V; D'Incà, R; Irato, P; Longo, G; Mestriner, C; Sturniolo, GC, 1999) |
"Therapy of Wilson's disease continues to evolve." | ( Brewer, GJ; Dick, RD; Fink, JK; Hedera, P; Johnson, VD; Kluin, KJ, 2000) |
"To report the features of Wilson's disease with severe hepatic insufficiency in a series of 17 patients and, during the second period of the study, to assess the efficacy of a policy consisting of early administration of D-penicillamine." | ( Benhamou, JP; Bernuau, J; Degott, C; Durand, F; Giostra, E; Mentha, G; Shouval, D; Valla, D, 2001) |
"In most patients with Wilson's disease heralded by severe hepatic insufficiency and without encephalopathy at admission, early administration of D-penicillamine was associated with survival without transplantation." | ( Benhamou, JP; Bernuau, J; Degott, C; Durand, F; Giostra, E; Mentha, G; Shouval, D; Valla, D, 2001) |
"A 37-year-old man with Wilson's disease is described, in whom the introduction of penicillamine therapy was followed after 3." | ( Kostić, VS; Pejović, S; Sternić, N; Svetel, M, 2001) |
"The search for new anticopper drugs for Wilson's disease is culminating in two excellent new drugs: zinc for maintenance therapy and tetrathiomolybdate (TM) for initial therapy." | ( Brewer, GJ, 2001) |
"A case of a 11-yr-long Wilson's disease treatment in a 16-yr-old boy with neurologic presentation was analyzed and monitored." | ( Machalski, M; Najda, J; Stella-Hołowiecka, B, 2001) |
"Four male patients with Wilson's disease were enrolled in this study of pre- and post-treatment iron metabolism." | ( Hayashi, H; Kono, S; Mabuchi, H; Miyajima, H; Okada, T; Shiono, Y; Takikawa, T; Wakusawa, S; Yano, M, 2001) |
"Phenotypical cure of Wilson disease by liver transplantation raised the question whether gene therapy may represent a successful alternative treatment procedure." | ( Auburger, G; Doll, J; Ha-Hao, D; Hofmann, C; Merle, U; Strauss, M; Stremmel, W; Tuma, S; Wesch, H, 2002) |
"Because Wilson's disease is effectively treated, it is extremely important for physicians to learn to recognize and diagnose the disease." | ( Brewer, GJ; Fink, JK; Hedera, P, 1999) |
"We report two patients with Wilson's disease and ALF treated with the Molecular Adsorbents Recirculating System (MARS)." | ( Felldin, M; Gillett, GT; Jalan, R; Larsson, B; Olausson, M; Sen, S; Steiner, C; Williams, R, 2002) |
"Due to specific treatment Wilson's disease was well controlled in all but one patient." | ( Erhardt, A; Häussinger, D; Hefter, H; Hoffmann, A, 2002) |
"In 1951, BAL was used to treat Wilson's disease with striking success." | ( Redman, K; Vilensky, JA, 2003) |
"Life-long, constant, pharmacological Wilson's disease therapy, administered after its early diagnosis, allows for long periods of patients survival, frequently comparable to the normal population." | ( Machalski, M; Mykała-Cieśla, J; Najda, J; Stella-Hołowiecka, B; Woszczyk, D, 2002) |
"The potential for therapy for Wilson disease (WD) emphasizes the importance of presymptomatic diagnosis in families with WD (WD families)." | ( Lin, MT; Murong, SX; Wang, N; Wu, ZY, 2003) |
"In patients with Wilson's disease and neurological manifestations, treatment with D-penicillamine can cause worsening of neurological symptoms, usually in the first few weeks of treatment." | ( Amorós, I; Aragó, M; García, M; Merino, C; Primo, J; Serra, B, 2004) |
"The purpose of the therapy of Wilson's disease is to eliminate the copper by chelators (D-penicillamine, triethylene tetramine, ammonium tetrathiomolibdate) and to inhibit the absorption and accumulation of copper by zinc salts (zinc sulphate, zinc acetate, zinc gluconate)." | ( Csák, T; Folhoffer, A; Horváth, A; Nagy, J; Vincze, Z; Zelkó, R, 2003) |
"The progression of Wilson disease (WD), a disorder of copper metabolism, can be arrested by chelation therapy." | ( Davie, CA; Lees, AJ; MacManus, D; Miller, DH; Miszkiel, KA; Page, RA; Schapira, AH; Walshe, JM, 2004) |
"These patients had been treated for Wilson's disease since 14 and 16 years, respectively." | ( Balme, B; Bécuwe, C; Dalle, S; Kanitakis, J; Ronger-Savlé, S; Skowron, F; Thomas, L, 2005) |
"The treatment of Wilson's disease has changed considerably in recent times, from the use of penicillamine (Cuprimine, Merck) for all stages and types of disease, to the use of three other anticopper drugs at appropriate times for appropriate patients." | ( Brewer, GJ, 2006) |
"Primarily newly diagnosed patients with Wilson disease presenting with neurologic symptoms who had not been treated longer than 4 weeks with an anticopper drug." | ( Askari, F; Brewer, GJ; Carlson, M; Dick, RB; Fink, JK; Hedera, P; Kluin, KJ; Lorincz, MT; Moretti, P; Schilsky, M; Sitterly, J; Tankanow, R, 2006) |
"Iron overload in Wilson's disease might be worsened after treatment because of the close relation to hypoceruloplasminemia, in which the iron efflux from the liver to the circulation is disturbed." | ( Fujita, Y; Hayashi, H; Wakusawa, S; Yano, M, 2006) |
"Fulminant Wilson's disease (WD) is almost invariably fatal, and liver transplantation is the only life-saving treatment." | ( Filip, K; Jirsa, M; Kozak, L; Petrasek, J; Sperl, J; Spicak, J; Taimr, P; Trunecka, P, 2007) |
"The discovery of the Wilson's disease gene has opened up a new molecular diagnostic approach, and could form the basis of future gene therapy." | ( Ala, A; Ashkan, K; Dooley, JS; Schilsky, ML; Walker, AP, 2007) |
"Twenty-three Wilson's disease patients undergoing long-term treatment were enrolled in the study." | ( Bowlus, CL; Burra, P; D'Incà, R; Di Leo, V; Irato, P; Lamboglia, F; Martines, D; Medici, V; Sturniolo, GC; Tseng, SC, 2007) |
"Acute decompensated Wilson disease presenting as fulminant liver failure is a life-threatening condition for which liver transplantation is the ultimate treatment." | ( Chiu, A; Fan, ST; Tsoi, NS, 2008) |
"We report a 47-year-old man with Wilson disease who developed bullous lesions on the trunk and extremities after 20 years of penicillamine treatment." | ( Medenica, L; Popadic, S; Skiljevic, D, 2009) |
"Evaluation of patients with Wilson's disease who have undergone transplantation is indicated for the prevention and treatment of bone loss." | ( Boldo, A; Taxel, P, 2009) |
"By contrast, Wilson's disease (WD) is characterized by progressive copper accumulation with hepatic and neurological impairment and requires life-long treatment with zinc and/or chelator agents." | ( Foubert-Samier, A; Kazadi, A; Lagueny, A; Meissner, W; Rouanet, M; Tison, F; Vital, A, 2009) |
"Seventeen symptomatic patients with Wilson disease were treated with zinc only." | ( Houwen, RH; Linn, FH; van der Kleij, S; van Erpecum, KJ; van Hattum, J, 2009) |
"More in-depth analyses of Wilson disease among complex patients with concurrent diseases will help improve algorithms for earlier diagnosis and treatment." | ( Frenette, C; Gish, R; Schilsky, M; Wong, RJ, 2011) |
"Our knowledge of the genetic basis of Wilson disease has increased dramatically; however, understanding of genotype-phenotype correlation and multifarious effects of copper toxicity as basis for targeted and individualised therapy strategies is still insufficient." | ( Huster, D, 2010) |
"Here we first briefly review Wilson's disease, then review the four anticopper drugs used to treat Wilson's disease." | ( Brewer, GJ, 2009) |
"Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome." | ( Barbosa, ER; Bem, RS; Deguti, MM; Muzzillo, DA; Teive, HA; Werneck, LC, 2011) |
"The study suggests that Wilson's disease must be ruled out in children older than two years presenting with abnormal levels of hepatic enzymes because of the heterogeneity of symptoms and the encouraging treatment results obtained so far." | ( Danesi, V; Kleine, RT; Mendes, R; Miura, I; Porta, G; Pugliese, R, 2012) |
"A 38-year-old woman with Wilson's disease developed neurological deterioration after 25 years of low-dose penicillamine administration." | ( Doi, Y; Fukui, H; Hanafusa, T; Ishida, S; Kimura, F; Sugino, M; Tamai, H; Yamane, K, 2012) |
"To evaluate Wilson's disease (WD) features in Sardinian patients with Kayser-Fleischer (KF) ring and to evaluate correlations between modifications in KF and anti-copper therapy and systemic WD evolution." | ( Civolani, A; Demelia, E; Demelia, L; Fenu, M; Liggi, M; Sorbello, O, 2012) |
"Excellent treatment options exist for Wilson disease, based on copper chelation." | ( Kaler, SG, 2013) |
"Untreated Wilson's disease has been shown to cause subfertility and even in cases where pregnancy occurs, it often results in spontaneous miscarriage." | ( Khawaja, A; Malik, A; Sheikh, L, 2013) |
"Patients with Wilson's disease receiving regular treatment who remain asymptomatic are usually able to conceive and achieve successful outcomes." | ( Khawaja, A; Malik, A; Sheikh, L, 2013) |
"Penicillamine is a standard therapy for Wilson disease (WD) but some patients have paradoxical worsening." | ( Chandra, S; Kalita, J; Kumar, B; Kumar, V; Misra, UK, 2014) |
"Cu chelators used in the treatment of Wilson disease decreased tumour growth of human or murine cells transformed by BRAF(V600E) or engineered to be resistant to BRAF inhibition." | ( Brady, DC; Campbell, SL; Chaikuad, A; Counter, CM; Crowe, MS; Hobbs, GA; Knapp, S; Thiele, DJ; Turski, ML; Xiao, K; Yao, X, 2014) |
"Early detection of Wilson's disease is critical because effective medical treatments such as chelating agents and zinc salts are available, which can prevent lifelong neurological disabilities and/or cirrhosis." | ( Hahn, SH, 2014) |
"To achieve permanent correction of Wilson's disease by a cell therapy approach, replacement of diseased hepatocytes with healthy hepatocytes is desirable." | ( Gupta, S, 2014) |
"Available data in Wilson's disease suggest that substantial increases in CNS Cu concentrations persist for a long time during chelating treatment and that local accumulation of Fe in certain brain nuclei may occur during the course of the disease." | ( Aaseth, J; Dusek, P; Flaten, TP; Litwin, T; Roos, PM; Schneider, SA, 2015) |
"The influence of copper depletion from Wilson disease-specific medical treatment on tumour activity remains to be elucidated." | ( Cassiman, D; Członkowska, A; Gotthardt, DN; Hefter, H; Huster, D; Litwin, T; Mogler, C; Pfeiffenberger, J; Reuner, U; Schemmer, P; Schirmacher, P; Schulze-Bergkamen, H; Stremmel, W; Weiss, KH, 2015) |
"Patients with neurologic Wilson disease (NWD) may worsen on treatment, but there is no study evaluating the role of oxidative stress." | ( Kalita, J; Kumar, V; Misra, UK; Ranjan, A, 2015) |
"We describe 2 patients with Wilson's disease treated with D-penicillamine who presented with ANCA (+) vasculitis and renal involvement." | ( Cho, H; Lee, ST; Lee, Y, 2016) |
"The severe liver pathology of untreated Wilson disease (WD) is associated with massive copper overload caused by mutations in a liver-specific copper-transporting ATPase, ATP7B." | ( Kaler, SG, 2016) |
"Because of rarity, adult Wilson's disease patients with initial psychiatric presentations are frequently misdiagnosed and definitive treatment with chelating agents is not offered with continual organ damage from copper accumulation." | ( Muneer, A, 2016) |
"A 37-year-old Wilson disease patient treated with D-penicillamine visited our hospital for the evaluation of his liver function." | ( Abe, S; Harada, M; Hayashi, T; Honma, Y; Kumamoto, K; Kusanaga, M; Minami, S; Morino, K; Oe, S; Ogino, N; Shibata, M; Yabuki, K, 2020) |
"Oxidative stress has been reported in Wilson's disease with neurological manifestation (WDNM), but there is a paucity of studies on the role of adjunctive antioxidant therapy." | ( Kalita, J; Kumar, V; Misra, UK; Parashar, V; Ranjan, A, 2020) |
"A 17-year-old female was diagnosed with Wilson disease and commenced on oral zinc therapy." | ( Ekladious, A; Mohamad, AA; Wheeler, L; Wu, LM, 2020) |
"Unified Wilson's Disease Rating Scale (UWDRS), Global Assessment Scale (GAS) for WD and the Brewer-adapted Unified Huntington's Disease Rating Scale (UHDRS) for WD, magnetic resonance imaging, and monitoring for potential adverse effects were carried out in all patients before starting ATTM and 3 months later when ATTM was stopped and zinc treatment was initiated." | ( Auger, C; Cardona, I; De Fabregues, O; Palasí, A; Quintana, M; Vargas, V; Viñas, J, 2020) |
"This article reviews the treatment of Wilson Disease, focusing on penicillamine, sodium dimercaptopropane sulfonate, ammonium tetrathiomolybdate and zinc, liver transplantation and gene therapy." | ( Fan, JG; Xiao, QQ, 2021) |
"Diagnosis of Wilson disease (WD) can be difficult because of its protean clinical presentations, but early diagnosis is important because effective treatment is available and can prevent disease progression." | ( Allende, DS; Bellizzi, AM; Cheng, J; Graham, RP; Lamps, L; Mangalaparthi, KK; Moreira, RK; Mounajjed, T; Pandey, A; Rowan, DJ; Singh, S; Westerhoff, M, 2022) |
"The prognosis of Wilson's disease (WD) has changed radically since the introduction of medical therapy with chelators and zinc." | ( Björklund, J; Damgaard Sandahl, T; Grønbæk, H; Lund Laursen, T; Munk, DE; Ott, P; Vilstrup, H, 2022) |
"We show that Wilson disease has favorable outcomes with long overall survival, assuming adherence to therapy and lack of other insults to their liver." | ( Cardoso, H; Garrido, I; Liberal, R; Lopes, S; Macedo, G; Marques, M, 2022) |
"In this study, 32 pediatric Wilson's disease patients who had been on treatment at least for 12 months were included." | ( Boyraz, MS; Demir, H; Demirtaş, D; Göktaş, MA; Hizarcıoğlu-Gülşen, H; Özen, H; Saltık Temizel, İN; Şimşek Onat, P; Yıldırım, D, 2023) |
"In this study, 32 pediatric Wilson's disease patients who had been on treatment at least for 12 months were included." | ( Boyraz, MS; Demir, H; Demirtaş, D; Göktaş, MA; Hizarcıoğlu-Gülşen, H; Özen, H; Saltık Temizel, İN; Şimşek Onat, P; Yıldırım, D, 2023) |
"In patients with Wilson disease, defined as an excess accumulation of copper which can damage the liver, brain and other vital organs, neurological worsening can occur despite chelation therapy." | ( Ala, A; Eker, E; Merle, U; Mohr, I; Pfeiffenberger, J; Poujois, A; Weiss, KH, 2023) |
"Early recognition and treatment of Wilson's disease is important to prevent critical hepatic and neurological complications." | ( Baker, J; Buccoliero, R; Chakraborty, S; Thakur, S, 2023) |
"Although rare, Wilson disease, if diagnosed early, is a potentially treatable and reversible cause of psychosis." | ( Azadi, A; Clarke, AJ; Dunkerton, S; Halmagyi, GM; Thompson, EO; Tisch, S; Worthington, JM; Xie, P, 2023) |