Works matching DE "COPPER metabolism disorders"
Results: 74
Kayser-Fleischer ring.
- Published in:
- Journal of Postgraduate Medicine, 2008, v. 54, n. 3, p. 238, doi. 10.4103/0022-3859.41816
- By:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- Publication type:
- Article
This liver is a giver: Wilson disease and living related liver transplantation.
- Published in:
- 1999
- By:
- Publication type:
- Editorial
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:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- Publication type:
- Article
Chronic psychosis, delayed diagnosis and Wilson's disease.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
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:
- 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:
- 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:
- Publication type:
- Article
Comparative assessment of clinical rating scales in Wilson's disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Zebrafish Mutants calamity and catastrophe Define Critical Pathways of Gene-Nutrient Interactions in Developmental Copper Metabolism.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 11, p. 1, doi. 10.1371/journal.pgen.1000261
- By:
- 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:
- 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:
- Publication type:
- Article
Treatment of Wilson's disease.
- Published in:
- 1983
- By:
- Publication type:
- journal 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:
- 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:
- 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:
- 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:
- Publication type:
- Article
Morbus Wilson.
- Published in:
- Praxis (16618157), 2010, v. 99, n. 3, p. 175, doi. 10.1024/1661-8157/a000021
- By:
- Publication type:
- Article
Wilson disease: more than meets the eye.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The Irony of Treating Wilson's Disease.
- Published in:
- 2001
- By:
- 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:
- 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:
- Publication type:
- Article
COPPER: MOLECULAR TO HEALTH ASPECTS II (603.1-603.9).
- Published in:
- 2004
- Publication type:
- Abstract
Microbial peptide de-coppers mitochondria: implications for Wilson disease.
- Published in:
- 2016
- By:
- 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:
- 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:
- 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:
- 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:
- Publication type:
- Article
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
- Published in:
- 2004
- By:
- Publication type:
- journal 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- Publication type:
- Article
A child with kinky hair.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2002, v. 166, n. 11, p. 1442
- By:
- 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:
- Publication type:
- Article