Found: 1113
Select item for more details and to access through your institution.
Type 1 Renal Tubular Acidosis in Wilson's Disease.
- Published in:
- Annals of Indian Academy of Neurology, 2024, v. 27, n. 4, p. 460, doi. 10.4103/aian.aian_159_24
- By:
- Publication type:
- Article
Multi-omics study unravels gut microbiota and metabolites alteration in patients with Wilson's disease.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71740-5
- By:
- Publication type:
- Article
Correction: Garbuz et al. Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population. Genes 2022, 13 , 1940.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study.
- Published in:
- Liver International, 2024, v. 44, n. 9, p. 2424, doi. 10.1111/liv.16009
- By:
- Publication type:
- Article
Wilson's Disease—Crossroads of Genetics, Inflammation and Immunity/Autoimmunity: Clinical and Molecular Issues.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 9034, doi. 10.3390/ijms25169034
- By:
- Publication type:
- Article
A severe case of esophageal ulcer causing a tight stricture despite long-term D-penicillamine treatment.
- Published in:
- 2014
- By:
- Publication type:
- Report
Two cases of D-penicillamine-induced elastosis perforans serpiginosa.
- Published in:
- 2016
- By:
- Publication type:
- case study
Laugier-Hunziker syndrome.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Penicillamine induced pseudoxanthoma elasticum with elastosis perforans serpiginosa.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Antioxidant Capacity Is Decreased in Wilson's Disease and Correlates to Liver Function.
- Published in:
- Biological Trace Element Research, 2023, v. 201, n. 4, p. 1582, doi. 10.1007/s12011-022-03277-5
- By:
- Publication type:
- Article
Morning (First) Urine Copper Concentration: a New Approach for the Diagnosis of Wilson's Disease.
- Published in:
- Biological Trace Element Research, 2019, v. 190, n. 2, p. 283, doi. 10.1007/s12011-018-1547-z
- By:
- Publication type:
- Article
Movement Disorders.
- Published in:
- 2007
- Publication type:
- Editorial
Metallothionein is elevated in liver and duodenum of Atp7b<sup>(−/−)</sup> mice.
- Published in:
- BioMetals, 2018, v. 31, n. 4, p. 617, doi. 10.1007/s10534-018-0110-x
- By:
- Publication type:
- Article
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.
- Published in:
- BioMetals, 2017, v. 30, n. 6, p. 823, doi. 10.1007/s10534-017-0058-2
- 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
An overview of various mammalian models to study chronic copper intoxication associated Alzheimer's disease like pathology.
- Published in:
- BioMetals, 2015, v. 28, n. 1, p. 1, doi. 10.1007/s10534-014-9799-3
- By:
- Publication type:
- Article
Erratum to: Treatment with d-penicillamine or zinc sulphate affects copper metabolism and improves but not normalizes antioxidant capacity parameters in Wilson disease.
- Published in:
- 2014
- By:
- Publication type:
- Correction notice
Treatment with d-penicillamine or zinc sulphate affects copper metabolism and improves but not normalizes antioxidant capacity parameters in Wilson disease.
- Published in:
- BioMetals, 2014, v. 27, n. 1, p. 207, doi. 10.1007/s10534-013-9694-3
- By:
- Publication type:
- Article
Intestinal expression of metal transporters in Wilson’s disease.
- Published in:
- BioMetals, 2013, v. 26, n. 6, p. 925, doi. 10.1007/s10534-013-9668-5
- By:
- Publication type:
- Article
Systems biology approach to Wilson's disease.
- Published in:
- BioMetals, 2011, v. 24, n. 3, p. 455, doi. 10.1007/s10534-011-9430-9
- By:
- Publication type:
- Article
Characteristics and outcomes of acute hepatitis of unknown etiology in Egypt: first report of adult adenovirus-associated hepatitis.
- Published in:
- Infection, 2023, v. 51, n. 4, p. 887, doi. 10.1007/s15010-022-01945-1
- By:
- Publication type:
- Article
Clinical features of hemolysis, elevated liver enzymes, and low platelet count syndrome in undiagnosed Wilson disease: report of two cases.
- Published in:
- 2010
- By:
- Publication type:
- Report
Liver transplantation for metabolic liver diseases in adults: indications and outcome.
- Published in:
- Nephrology Dialysis Transplantation, 2007, v. 22, n. suppl_8, p. viii9, doi. 10.1093/ndt/gfm658
- By:
- Publication type:
- Article
ANÁLISE COMPARATIVA DA EFICÁCIA NO TRATAMENTO DE PACIENTES COM DOENÇA DE WILSON POR MEIO DA UTILIZAÇÃO DOS DIFERENTES AGENTES QUELANTES: ZINCO, TRIENTINA, D-PENICILAMINA E TETRATIOMOLIBDATO.
- Published in:
- Revista Foco (Interdisciplinary Studies Journal), 2023, v. 16, n. 9, p. 1, doi. 10.54751/revistafoco.v16n9-108
- By:
- Publication type:
- Article
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005306
- By:
- Publication type:
- Article
Refractory liver dysfunction was remarkably improved with chelating agents of Wilson's disease, in a patient with systemic lupus erythematosus-like syndrome after a parvovirus B19 infection.
- Published in:
- Modern Rheumatology Case Reports, 2021, v. 5, n. 1, p. 182, doi. 10.1080/24725625.2020.1832754
- By:
- Publication type:
- Article
Novel human pathological mutations.
- Published in:
- Human Genetics, 2006, v. 119, n. 3, p. 359, doi. 10.1007/s00439-006-0139-8
- By:
- Publication type:
- Article
HUMAN GENE MUTATIONS.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 539, doi. 10.1007/s00439-005-0041-9
- Publication type:
- Article
ATP7B R778L mutant hepatocytes resist copper toxicity by activating autophagy and inhibiting necroptosis.
- Published in:
- Cell Death Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41420-023-01641-5
- By:
- Publication type:
- Article
Analysis of Running in Wilson's Disease.
- Published in:
- Sports (2075-4663), 2022, v. 10, n. 1, p. 11, doi. 10.3390/sports10010011
- By:
- Publication type:
- Article
Simultaneous Presentation of Autoimmune Hepatitis and Wilson Disease: A Systematic Review Study.
- Published in:
- Journal of Pediatrics Review, 2021, v. 9, n. 4, p. 277, doi. 10.32598/jpr.9.4.988.1
- By:
- Publication type:
- Article
Wilson's disease: ‘face of giant panda’ and ‘trident’ signs together.
- Published in:
- Oxford Medical Case Reports, 2014, v. 2014, n. 1, p. 16, doi. 10.1093/omcr/omu005
- By:
- Publication type:
- Article
Wilson's Disease with Wolff-Parkinson-White Syndrome: Case report.
- Published in:
- Journal of Turgut Ozal Medical Center, 2013, v. 20, n. 1, p. 68, doi. 10.7247/jtomc.20.1.15
- By:
- Publication type:
- Article
Copper deposition in oligodendroglial cells in an autopsied case of hepatolenticular degeneration.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Contact allergy to d-penicillamine.
- Published in:
- 1990
- By:
- Publication type:
- Case Study
Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 14, p. 1214, doi. 10.3390/cells13141214
- By:
- Publication type:
- Article
Commander Complex—A Multifaceted Operator in Intracellular Signaling and Cargo.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 12, p. 3447, doi. 10.3390/cells10123447
- By:
- Publication type:
- Article
Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 872, doi. 10.3390/cells9040872
- By:
- Publication type:
- Article
Long-Term Survival of Transplanted Autologous Canine Liver Organoids in a COMMD1-Deficient Dog Model of Metabolic Liver Disease.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 2, p. 410, doi. 10.3390/cells9020410
- By:
- Publication type:
- Article
Brain Magnetic Resonance Imaging in Wilson's Disease—Significance and Practical Aspects—A Narrative Review.
- Published in:
- Brain Sciences (2076-3425), 2024, v. 14, n. 7, p. 727, doi. 10.3390/brainsci14070727
- By:
- Publication type:
- Article
Dysfunction of the Lenticular Nucleus Is Associated with Dystonia in Wilson's Disease.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 1, p. 7, doi. 10.3390/brainsci13010007
- By:
- Publication type:
- Article
Cognitive and Physical Intervention in Metals' Dysfunction and Neurodegeneration.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 345, doi. 10.3390/brainsci12030345
- By:
- Publication type:
- Article
Anaesthetic management in Wilson's disease with severe neuropsychiatric manifestations.
- Published in:
- Sri Lankan Journal of Anaesthesiology, 2017, v. 25, n. 2, p. 110, doi. 10.4038/slja.v25i2.8226
- By:
- Publication type:
- Article
Serial combination of non-invasive tools improves the diagnostic accuracy of severe liver fibrosis in patients with NAFLD.
- Published in:
- Alimentary Pharmacology & Therapeutics, 2017, v. 46, n. 6, p. 617, doi. 10.1111/apt.14219
- By:
- Publication type:
- Article
Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease.
- Published in:
- Alimentary Pharmacology & Therapeutics, 2009, v. 29, n. 9, p. 947, doi. 10.1111/j.1365-2036.2009.03959.x
- By:
- Publication type:
- Article
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 2, p. 67, doi. 10.1038/jhg.2012.134
- By:
- Publication type:
- Article
"Let my liver rather heat with wine" - a review of hepatic fibrosis pathophysiology and emerging therapeutics.
- Published in:
- Hepatic Medicine: Evidence & Research, 2019, v. 11, p. 109, doi. 10.2147/HMER.S213397
- By:
- Publication type:
- Article
An uncommon cause of hypophosphatemic rickets: Answers.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2613, doi. 10.1007/s00467-023-05952-8
- By:
- Publication type:
- Article
A child with abdominal pain, arthralgia, palpable skin rash, hepatosplenomegaly, and pancytopenia: Answers.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 6, p. 1771, doi. 10.1007/s00467-022-05750-8
- By:
- Publication type:
- Article
Nephrotic range proteinuria in an adolescent with a diagnosis of Wilson's disease: Answers.
- Published in:
- 2021
- By:
- Publication type:
- Test/Instrument