Works matching DE "COPPER metabolism disorders"

Results: 74

Disease-causing point-mutations in metal-binding domains of Wilson disease protein decrease stability and increase structural dynamics.

Published in:

BioMetals, 2017, v. 30, n. 1, p. 27, doi. 10.1007/s10534-016-9976-7

By:

Kumar, Ranjeet;
Ariöz, Candan;
Li, Yaozong;
Bosaeus, Niklas;
Rocha, Sandra;
Wittung-Stafshede, Pernilla

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

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

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

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

Dietary Copper Deficiency Reduces the Elevation of Blood Pressure Caused by Nitric Oxide Synthase Inhibition in Rats.

Published in:

Pharmacology, 2002, v. 65, n. 3, p. 141, doi. 10.1159/000058040

By:

Saari, Jack T.

Publication type:

Article

Value of histochemical stains for copper in the diagnosis of paediatric copper storage disorders.

Published in:

Histopathology, 1999, v. 34, n. 5, p. 471, doi. 10.1046/j.1365-2559.1999.00676.x

By:

Sethi

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

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

Urinary Copper Elevation in a Mouse Model of Wilson's Disease Is a Regulated Process to Specifically Decrease the Hepatic Copper Load.

Published in:

PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038327

By:

Gray, Lawrence W.;
Fangyu Peng;
Molloy, Shannon A.;
Pendyala, Venkata S.;
Muchenditsi, Abigael;
Muzik, Otto;
Jaekwon Lee;
Kaplan, Jack H.;
Lutsenko, Svetlana

Publication type:

Article

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

Published in:: 2004
Publication type:: Abstract

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

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

Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 3, p. 206, doi. 10.1007/s100380050144

By:

Ogawa, A.;
Yamamoto, Shigenori;
Takayanagi, Masaki;
Kogo, Toshiaki;
Kanazawa, Masaki;
Kohno, Yoichi

Publication type:

Article

Determination of a Beckman Coulter AU turbidometric method-specific caeruloplasmin reference interval.

Published in:

Annals of Clinical Biochemistry, 2021, v. 58, n. 3, p. 244, doi. 10.1177/0004563221989360

By:

Kaye, Olivia E;
Cook, Paul

Publication type:

Article

Copper deficiency: an unusual case of myelopathy with neuropathy.

Published in:

Annals of Clinical Biochemistry, 2008, v. 45, n. 6, p. 616, doi. 10.1258/acb.2008.008122

By:

Winston, Gavin P.;
Jaiser, Stephan R.

Publication type:

Article

Wilson's disease: the importance of measuring serum caeruloplasmin non-immunologically.

Published in:

Annals of Clinical Biochemistry, 2003, v. 40, n. 2, p. 115, doi. 10.1258/000456303763046021

By:

Walshe, J. M.

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

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

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 872, doi. 10.1093/brain/awt012

By:

Martinelli, Diego;
Travaglini, Lorena;
Drouin, Christian A.;
Ceballos-Picot, Irene;
Rizza, Teresa;
Bertini, Enrico;
Carrozzo, Rosalba;
Petrini, Stefania;
de Lonlay, Pascale;
El Hachem, Maya;
Hubert, Laurence;
Montpetit, Alexandre;
Torre, Giuliano;
Dionisi-Vici, Carlo

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

Zinc-Induced Copper Deficiency in a Coin Swallower.

Published in:

American Journal of Gastroenterology (Springer Nature), 2000, v. 95, n. 10, p. 2975, doi. 10.1111/j.1572-0241.2000.02336.x

By:

Hassan, Hassan A.;
Netchvolodoff, Catherine;
Raufman, Jean-Pierre

Publication type:

Article

Early Onset of Nephrotic Syndrome After Treatment With D-Penicillamine in a Patient With Wilson's Disease.

Published in:

American Journal of Gastroenterology (Springer Nature), 1998, v. 93, n. 12, p. 2544, doi. 10.1111/j.1572-0241.1998.00715.x

By:

Siafakas, Constantinos G.;
Jonas, Maureen M.;
Alexander, Stephen;
Herrin, John;
Furuta, Glenn T.

Publication type:

Article

Copper Deficiency and Microcytic Anemia Resulting from Prolonged Ingestion of Over--the--Counter Zinc.

Published in:

American Journal of Gastroenterology (Springer Nature), 1992, v. 87, n. 8, p. 1054

By:

Gyorffy, Edwin J.;
Hung Chan

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

Kayser-Fleischer ring.

Published in:

Journal of Postgraduate Medicine, 2008, v. 54, n. 3, p. 238, doi. 10.4103/0022-3859.41816

By:

Suvarna, J. C.

Publication type:

Article

Therapeutic and management challenges in Wilson's disease.

Published in:

Journal of Gastroenterology & Hepatology, 2004, v. 19, p. S391, doi. 10.1111/j.1440-1746.2004.03709.x

By:

Bavdekar, Ashish

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

Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1547, doi. 10.1093/hmg/8.8.1547

By:

Ambrosini, Loreta

Publication type:

Article

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

Wilson disease: more than meets the eye.

Published in:

2018

By:

Kelly, Claire;
Pericleous, Marinos

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

Animal models of copper-associated liver disease.

Published in:

Comparative Hepatology, 2003, v. 2, p. 5, doi. 10.1186/1476-5926-2-5

By:

Fuentealba, I. Carmen;
Aburto, Enrique M.

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

Zinc monotherapy for young children with presymptomatic Wilson disease: A multicenter study in Japan.

Published in:

Journal of Gastroenterology & Hepatology, 2018, v. 33, n. 1, p. 264, doi. 10.1111/jgh.13812

By:

Eda, Keisuke;
Mizuochi, Tatsuki;
Iwama, Itaru;
Inui, Ayano;
Etani, Yuri;
Araki, Mariko;
Hara, Shinya;
Kumagai, Hideki;
Hagiwara, Shin‐Ichiro;
Murayama, Kei;
Murakami, Jun;
Shimizu, Norikazu;
Kodama, Hiroko;
Yasuda, Ryosuke;
Takaki, Yugo;
Yamashita, Yushiro

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

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

The Crd1 gene encodes a putative di-iron enzyme required for photosystem I accumulation in copper deficiency and hypoxia in Chlamydomonas reinhardtii.

Published in:

EMBO Journal, 2000, v. 19, n. 10, p. 2139, doi. 10.1093/emboj/19.10.2139

By:

Moseley, Jeffrey;
Quinn, Jeanette;
Eriksson, Mats;
Merchant, Sabeeha

Publication type:

Article

Microbial peptide de-coppers mitochondria: implications for Wilson disease.

Published in:

2016

By:

Kaler, Stephen G.

Publication type:

journal article

Elevated copper impairs hepatic nuclear receptor function in Wilson's disease.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3449, doi. 10.1172/JCI78991

By:

Wooton-Kee, Clavia Ruth;
Jain, Ajay K.;
Wagner, Martin;
Grusak, Michael A.;
Finegold, Milton J.;
Lutsenko, Svetlana;
Moore, David D.

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

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Published in:

2004

By:

Battisti, C.;
Dotti, M.T.;
Loudianos, G.;
Dessi, V.;
Battistini, S.;
Amato, T.;
Rufa, A.;
Federico, A.;
Dessì, V

Publication type:

journal 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

Copper and Anesthesia: Clinical Relevance and Management of Copper Related Disorders.

Published in:

Anesthesiology Research & Practice, 2013, p. 1, doi. 10.1155/2013/750901

By:

Langley, Adrian;
Dameron, Charles T.

Publication type:

Article

The Irony of Treating Wilson's Disease.

Published in:

2001

By:

Schilsky, Michael L.

Publication type:

Editorial