Works matching DE "COPPER metabolism disorders"
Results: 74
Recurrent stroke-like episodes of Wilson disease with a novel Val176fs mutation.
- Published in:
- 2018
- By:
- 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:
- 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
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- Publication type:
- Article
COPPER: MOLECULAR TO HEALTH ASPECTS II (603.1-603.9).
- Published in:
- 2004
- Publication type:
- Abstract
Comparative assessment of clinical rating scales in Wilson's disease.
- Published in:
- 2017
- By:
- Publication type:
- journal 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
Commentary.
- Published in:
- Journal of Neurosciences in Rural Practice, 2016, v. 7, n. 4, p. 589, doi. 10.4103/0976-3147.186979
- By:
- Publication type:
- Article
Generalized hyperpigmentation in Wilson's disease: An unusual association.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
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
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
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
The link between copper and Wilson's disease.
- Published in:
- Science Progress, 2013, v. 96, n. 3, p. 213, doi. 10.3184/003685013X13712193905878
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- 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:
- 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
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:
- 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:
- 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
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
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:
- 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
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- 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:
- 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
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
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:
- 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
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:
- 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:
- 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
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:
- Publication type:
- Article
Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.
- Published in:
- 2015
- By:
- Publication type:
- Opinion
A child with kinky hair.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2002, v. 166, n. 11, p. 1442
- By:
- 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:
- 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:
- 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
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
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:
- 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:
- Publication type:
- Article
Wilson disease: more than meets the eye.
- Published in:
- 2018
- By:
- Publication type:
- journal 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
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:
- 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
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
- Published in:
- 2004
- By:
- 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:
- Publication type:
- Article
This liver is a giver: Wilson disease and living related liver transplantation.
- Published in:
- 1999
- By:
- Publication type:
- Editorial
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
Treatment of Wilson's disease.
- Published in:
- 1983
- By:
- Publication type:
- journal article