Works matching DE "COPPER metabolism disorders"

Results: 75

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

Diethylentriaminepentaacetic Acid-deoxyglucoseamine (DTPA-DG): Novel Nanosized Anti-Wilson's Disease Cell Model.

Published in:

American Journal of Biomedical Sciences, 2013, v. 5, n. 1, p. 34, doi. 10.5099/aj130100034

By:

Mashayekhi, Mojgan;
Amanlou, Massoud;
Sadeghi, Kourosh;
Mosayebniya, Mona;
Ardestani, Mehdi Shafiee;
Mehravi, Bita

Publication type:

Article

Commentary.

Published in:

Journal of Neurosciences in Rural Practice, 2016, v. 7, n. 4, p. 589, doi. 10.4103/0976-3147.186979

By:

Xiao-Ping Wang

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

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

Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1195, doi. 10.1007/s11011-016-9854-6

By:

Chiplunkar, Shwetha;
Bindu, Parayil;
Nagappa, Madhu;
Bineesh, Cheminikara;
Govindaraj, Periyasamy;
Gayathri, Narayanappa;
Bharath, M.;
Arvinda, Hanumanthapura;
Mathuranath, Pavagada;
Sinha, Sanjib;
Taly, Arun

Publication type:

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

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

The Irony of Treating Wilson's Disease.

Published in:

2001

By:

Schilsky, Michael L.

Publication type:

Editorial

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

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

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

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

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

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

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

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

Neurologic Wilson's disease.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1184, n. 1, p. 173, doi. 10.1111/j.1749-6632.2009.05109.x

By:

Lorincz, Matthew T.

Publication type:

Article

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

Recurrent stroke-like episodes of Wilson disease with a novel Val176fs mutation.

Published in:

2018

By:

Pan, Lishou;
Ding, Dan;
Leng, Huilin;
Deng, Xinbo;
Xu, Yanming

Publication type:

Case Study

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

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

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

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

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

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

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

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

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 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

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 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

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

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

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

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

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

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

This liver is a giver: Wilson disease and living related liver transplantation.

Published in:

1999

By:

Rand, Elizabeth B.

Publication type:

Editorial

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

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

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