Works matching Copper metabolism disorders

Results: 327

An Unusual Presentation of Copper Metabolism Disorder and a Possible Connection With Niemann-Pick Type C.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 4, p. 518, doi. 10.1177/0883073810383983

By:

Goez, Helly R.;
Jacob, Francois D.;
Fealey, Robert D.;
Patterson, Marc C.;
Ramaswamy, Vijay;
Persad, Rabin;
Johnson, Edward S.;
Yager, Jerome Y.

Publication type:

Article

铜代谢失调与细胞损伤及肝病的关系.

Published in:

Journal of Clinical Hepatology / Linchuang Gandanbing Zazhi, 2023, v. 39, n. 9, p. 2244, doi. 10.3969/j.issn.1001-5256.2023.09.032

By:

柳涛;
刘雅丽;
张飞宇;
高沿航

Publication type:

Article

The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.

Published in:

Journal of Gastroenterology, 2006, v. 41, n. 6, p. 582, doi. 10.1007/s00535-006-1807-0

By:

Lovicu, Mario;
Dessì, Valeria;
Lepori, Maria Barbara;
Zappu, Antonietta;
Zancan, Lucia;
Giacchino, Raffaella;
Marazzi, Maria Grazia;
Iorio, Raffaele;
Vegnente, Angela;
Vajro, Pietro;
Maggiore, Giuseppe;
Marcellini, Matilde;
Barbera, Cristiana;
Kostic, Vladimir;
Farci, Anna Maria Giulia;
Solinas, Antonello;
Altuntas, Buket;
Yuce, Aysel;
Kocak, Nurten;
Tsezou, Aspasia

Publication type:

Article

The link between copper and Wilson's disease.

Published in:

Science Progress, 2013, v. 96, n. 3, p. 213, doi. 10.3184/003685013X13712193905878

By:

PURCHASE, RUPERT

Publication type:

Article

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4121, doi. 10.1093/hmg/ddac156

By:

Batzios, Spyros;
Tal, Galit;
DiStasio, Andrew T;
Peng, Yanyan;
Charalambous, Christiana;
Nicolaides, Paola;
Kamsteeg, Erik-Jan;
Korman, Stanley H;
Mandel, Hanna;
Steinbach, Peter J;
Yi, Ling;
Fair, Summer R;
Hester, Mark E;
Drousiotou, Anthi;
Kaler, Stephen G

Publication type:

Article

Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation.

Published in:

Liver International, 2011, v. 31, n. 1, p. 83, doi. 10.1111/j.1478-3231.2010.02354.x

By:

Bruha, Radan;
Marecek, Zdenek;
Pospisilova, Lenka;
Nevsimalova, Sona;
Vitek, Libor;
Martasek, Pavel;
Nevoral, Jiri;
Petrtyl, Jaromir;
Urbanek, Petr;
Jiraskova, Alena;
Ferenci, Peter

Publication type:

Article

Analysis of the human homologue of the canine copper toxicosis geneMURR1in Wilson disease patients.

Published in:

Journal of Molecular Medicine, 2004, v. 82, n. 9, p. 629, doi. 10.1007/s00109-004-0557-9

By:

Stuehler, Bettina;
Reichert, Juergen;
Stremmel, Wolfgang;
Schaefer, Mark

Publication type:

Article

Copper deficiency myelopathy.

Published in:

Journal of Neurology, 2010, v. 257, n. 6, p. 869, doi. 10.1007/s00415-010-5511-x

By:

Jaiser, Stephan R.;
Winston, Gavin P.

Publication type:

Article

Wilson’s disease presenting with rapidly progressive visual loss: Another neurologic manifestation of Wilson’s disease?

Published in:

Journal of Gastroenterology & Hepatology, 2001, v. 16, n. 6, p. 699, doi. 10.1046/j.1440-1746.2001.02381.x

By:

Gow, Paul J;
Peacock, Sophie E;
Chapman, Roger W

Publication type:

Article

Genotype Correlation with Fine Motor Symptoms in Patients with Wilson’s Disease.

Published in:

European Neurology, 2002, v. 48, n. 2, p. 97, doi. 10.1159/000062992

By:

Hermann, Wieland;
Caca, Karel;
Eggers, Birk;
Villmann, Thomas;
Clark, Daniel;
Berr, Frieder;
Wagner, Armin

Publication type:

Article

Wilson's Disease: A Comprehensive Review of the Molecular Mechanisms.

Published in:

International Journal of Molecular Sciences, 2015, v. 16, n. 3, p. 6419, doi. 10.3390/ijms16036419

By:

Fei Wu;
Jing Wang;
Chunwen Pu;
Liang Qiao;
Chunmeng Jiang

Publication type:

Article

Copper removal strategies for Wilson's disease crisis in the ICU.

Published in:

Anaesthesia & Intensive Care, 2014, v. 42, n. 2, p. 253

By:

REYNOLDS, H. V.;
TALEKAR, C. R.;
BELLAPART, J.;
LEGGETT, B. A.;
BOOTS, R. J.

Publication type:

Article

Generalized hyperpigmentation in Wilson's disease: An unusual association.

Published in:

2013

By:

Nandi, Madhumita;
Sarkar, Sumantra;
Mondal, Rakesh

Publication type:

Case Study

Morbus Wilson.

Published in:

Praxis (16618157), 2010, v. 99, n. 3, p. 175, doi. 10.1024/1661-8157/a000021

By:

Ramseier, S. P.;
Jung, H. H.

Publication type:

Article

Clinical Aspects of Wilson's Disease.

Published in:

American Journal of Gastroenterology (Springer Nature), 1990, v. 85, n. 11, p. 1453

By:

Schoen, Robert E.;
Sternlieb, Irmin

Publication type:

Article

A Rare Case of First Attack Psychosis and Wilson's Disease.

Published in:

Journal of Mood Disorders, 2017, v. 7, n. 3, p. 169, doi. 10.5455/jmood.20170820093356

By:

Ibiloglu, Aslihan Okan;
Atli, Abdullah;
Asoglu, Mehmet;
Ozkan, Mustafa

Publication type:

Article

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 524, doi. 10.1111/j.1399-0004.2005.00528.x

By:

Gromadzka, G.;
Schmidt, H. H.-J.;
Genschel, J.;
Bochow, B.;
Rodo, M.;
Tarnacka, B.;
Litwin, T.;
Chabik, G.;
Członkowska, A.

Publication type:

Article

Mutation analysis of Wilson disease in the Spanish population– identification of a prevalent substitution and eight novel mutations in theATP7Bgene.

Published in:

Clinical Genetics, 2005, v. 68, n. 1, p. 61, doi. 10.1111/j.1399-0004.2005.00439.x

By:

Margarit, E.;
Bach, V.;
Gómez, D.;
Bruguera, M.;
Jara, P.;
Queralt, R.;
Ballesta, F.

Publication type:

Article

Susceptibility-Weighted Imaging Manifestations in the Brain of Wilson’s Disease Patients.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0125100

By:

Yang, Jinjing;
Li, Xiaohu;
Yang, Renmin;
Yu, Xuen;
Yu, Changliang;
Qian, Yinfeng;
Yu, Yongqiang

Publication type:

Article

Wilson disease: more than meets the eye.

Published in:

2018

By:

Kelly, Claire;
Pericleous, Marinos

Publication type:

journal article

A child with kinky hair.

Published in:

Canadian Medical Association Journal (CMAJ), 2002, v. 166, n. 11, p. 1442

By:

Swartz, Erik N.

Publication type:

Article

Comparative assessment of clinical rating scales in Wilson's disease.

Published in:

2017

By:

Volpert, Hanna M.;
Pfeiffenberger, Jan;
Gröner, Jan B.;
Stremmel, Wolfgang;
Gotthardt, Daniel N.;
Schäfer, Mark;
Heinz Weiss, Karl;
Weiler, Markus;
Weiss, Karl Heinz

Publication type:

journal article

Hepatocellular carcinoma in Wilson's disease: A rare association in childhood.

Published in:

Pediatric Transplantation, 2006, v. 10, n. 5, p. 639, doi. 10.1111/j.1399-3046.2006.00562.x

By:

Savas, Nurten;
Canan, Oguz;
Ozcay, Figen;
Bilezikci, Banu;
Karakayali, Hamdi;
Yilmaz, Ugur;
Haberal, Mehmet

Publication type:

Article

Response of Fibroblasts from Menkes' and Wilson's Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 12, p. 1746, doi. 10.3390/biom13121746

By:

El Nachef, Laura;
Al-Choboq, Joëlle;
Bourguignon, Michel;
Foray, Nicolas

Publication type:

Article

MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 6, p. 2065, doi. 10.1007/s11011-018-0313-4

By:

Incecik, Faruk;
Bisgin, Atil;
Yılmaz, Mustafa

Publication type:

Article

Introduction to Human Disorders of Copper Metabolism.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. v, doi. 10.1111/nyas.12448

By:

Graper, Mary L.;
Huster, Dominik;
Kaler, Stephen G.;
Lutsenko, Svetlana;
Schilsky, Michael L.;
Thiele, Dennis J.

Publication type:

Article

Keratin Structure and Changes with Copper Deficiency.

Published in:

Australasian Journal of Dermatology, 1973, v. 14, n. 3, p. 127, doi. 10.1111/j.1440-0960.1973.tb01208.x

By:

Gillespie, A. M.

Publication type:

Article

Autonomic Dysfunction in Wilson's Disease: A Comprehensive Evaluation during a 3-Year Follow Up.

Published in:

Frontiers in Physiology, 2017, p. 1, doi. 10.3389/fphys.2017.00778

By:

Kai Li;
Lindauer, Charlotte;
Haase, Rocco;
Rüdiger, Heinz;
Reichmann, Heinz;
Reuner, Ulrike;
Ziemssen, Tjalf

Publication type:

Article

Treatment of Wilson's disease.

Published in:

1983

By:

Deiss, Andrew;
Deiss, A

Publication type:

journal article

Neurochemical and Behavioral Characteristics of Toxic Milk Mice: An Animal Model of Wilson's Disease.

Published in:

Neurochemical Research, 2013, v. 38, n. 10, p. 2037, doi. 10.1007/s11064-013-1111-3

By:

Przybyłkowski, Adam;
Gromadzka, Grażyna;
Wawer, Adriana;
Bulska, Ewa;
Jabłonka-Salach, Katarzyna;
Grygorowicz, Tomasz;
Schnejder-Pachołek, Anna;
Członkowski, Andrzej

Publication type:

Article

Rippled hyperpigmentation in Wilson's disease.

Published in:

International Journal of Dermatology, 2010, v. 49, n. 1, p. 67, doi. 10.1111/j.1365-4632.2009.04150.x

By:

Al Mohizea, Saad

Publication type:

Article

Poor cognitive development and abdominal pain: Wilson's disease.

Published in:

Scandinavian Journal of Gastroenterology, 2006, v. 41, n. 3, p. 361, doi. 10.1080/00365520510023431

By:

Grönlund, Juhani;
Näntö-Salonen, Kirsti;
Venetoklis, Jaana;
Holmberg, Raija-Leena;
Heinonen, Arja;
Ståhlberg, Marja-Riitta

Publication type:

Article

Clinical significance of the laboratory determination of low serum copper in adults.

Published in:

Clinical Chemistry & Laboratory Medicine, 2007, v. 45, n. 10, p. 1402, doi. 10.1515/CCLM.2007.292

By:

Kumar, Neeraj;
Butz, John A.;
Burritt, Mary F.

Publication type:

Article

Whom and how to screen for Wilson disease.

Published in:

Expert Review of Gastroenterology & Hepatology, 2014, v. 8, n. 5, p. 513, doi. 10.1586/17474124.2014.899898

By:

Ferenci, Peter

Publication type:

Article

Metabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolism.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02900-5

By:

Qiu, Yijie;
Su, Mingchuan;
Xiao, Xina;
Zhou, Dingzi;
Xie, Linshen

Publication type:

Article

COPPER: MOLECULAR TO HEALTH ASPECTS II (603.1-603.9).

Published in:: 2004
Publication type:: Abstract

The treatment of Wilson's disease, a rare genetic disorder of copper metabolism.

Published in:

Science Progress, 2013, v. 96, n. 1, p. 19, doi. 10.3184/003685013X13587771579987

By:

Purchase, Rupert

Publication type:

Article

Wilson’s disease—cause of mortality in 164 patients during 1992–2003 observation period.

Published in:

Journal of Neurology, 2005, v. 252, n. 6, p. 698, doi. 10.1007/s00415-005-0720-4

By:

Członkowska, A.;
Tarnacka, B.;
Litwin, T.;
Gajda, J.;
Rodo, M.

Publication type:

Article

Human swayback disease: expanding the spectrum of diseases associated with abnormal copper metabolism.

Published in:

Journal of Neurology, 2001, v. 248, n. 8, p. 707, doi. 10.1007/s004150170119

By:

Giovannoni, Gavin

Publication type:

Article

Copper deficiency-associated myelopathy in a 45-year-old woman.

Published in:

Journal of Neurology, 2001, v. 248, n. 8, p. 705, doi. 10.1007/s004150170118

By:

Schleper, Bert;
Stuerenburg, Hans Joerg

Publication type:

Article

Combination treatment with penicillamine and trientine in a patient with Wilson's disease.

Published in:

Pediatrics International, 2005, v. 47, n. 5, p. 589, doi. 10.1111/j.1442-200x.2005.02106.x

By:

Kobayashi, Shigetoshi;
Kodama, Hiroko;
Inuzuka, Ryo;
Mori, Yosuke;
Yanagawa, Yukishige

Publication type:

Article

Pattern of neuropsychological deficits in patients with treated Wilson's disease.

Published in:

European Archives of Psychiatry & Clinical Neuroscience, 2001, v. 251, n. 6, p. 262, doi. 10.1007/PL00007543

By:

Portala, Kamilla;
Levander, Sten;
Westermark, Kerstin;
Ekselius, Lisa;
von Knorring, Lars

Publication type:

Article

In Long-Term Bedridden Elderly Patients with Dietary Copper Deficiency, Biochemical Markers of Bone Resorption Are Increased with Copper Supplementation during 12 Weeks.

Published in:

Annals of Nutrition & Metabolism, 2006, v. 50, n. 5, p. 420, doi. 10.1159/000094633

By:

Kawada, Etsuo;
Moridaira, Kazuaki;
Itoh, Katsuhiko;
Hoshino, Ayami;
Tamura, Jun'ichi;
Morita, Toyoho

Publication type:

Article

Chronic psychosis, delayed diagnosis and Wilson's disease.

Published in:

2016

By:

Maurya, P. K.;
Kulshreshtha, D.;
Singh, A. K.;
Thakkar, M. D.;
Thacker, A. K.

Publication type:

Case Study

Copper deficiency pancytopenia with infectious complications after hemolytic anemia.

Published in:

Annals of Hematology, 2006, v. 85, n. 12, p. 881, doi. 10.1007/s00277-006-0168-3

By:

Saitoh, Takayuki;
Matsushima, Takafumi;
Toyama, Kohtaro;
Yamane, Aarito;
Irisawa, Hiroyuki;
Handa, Hiroshi;
Tsukamoto, Norifumi;
Karasawa, Masamitsu;
Nojima, Yoshihisa;
Murakami, Hirokazu

Publication type:

Article

Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease.

Published in:

Indian Journal of Medical Research, 2015, v. 141, n. 2, p. 175

By:

Mathur, Manjula;
Singh, Ekta;
Poduval, T. B.;
Rao, Akkipeddi V. S. S. N.

Publication type:

Article

Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.

Published in:

2015

By:

Gupta, Arnab

Publication type:

Opinion

What Syndrome Is This?

Published in:

Pediatric Dermatology, 1998, v. 15, n. 2, p. 137, doi. 10.1046/j.1525-1470.1998.1998015137.x

By:

Peterson, Jennifer;
Drolet, Beth A.;
Esterly, Nancy B.;
Mallory, Susan B.;
Krafchik, Bernice R.

Publication type:

Article

Unusual presentation of Wilson's disease in a child: a diagnostic dilemma to the clinicians.

Published in:

International Journal of Students' Research, 2011, v. 1, n. 2, p. 64, doi. 10.5549/IJSR.1.2.64-66

By:

Singh, Jagjit;
Abrol, Pankaj;
Singh, Gurmit;
Gupta, Harsh Vardhan;
Dalal, Monika;
Nandal, Rajesh;
Nigvekar, Shubhangi;
Shrikhande, Dhananjay Y.

Publication type:

Article

Hematological manifestations of copper deficiency: a retrospective review.

Published in:

European Journal of Haematology, 2008, v. 80, n. 6, p. 523, doi. 10.1111/j.1600-0609.2008.01050.x

By:

Halfdanarson, Thorvardur R.;
Kumar, Neeraj;
Chin-Yang Li;
Phyliky, Robert L.;
Hogan, William J.

Publication type:

Article