Results 21 to 30 of about 5,188,381 (253)
Co-occurrence of Wilson disease and Auto-Immune Hepatitis in 14-year-old female: A case report
Al-Mustansiriyah Journal of Pharmaceutical Sciences, 2022 Unusual cases of coexistence between Wilson's disease and autoimmune hepatitis have occurred. There are characteristics of both diseases in this community of patients, and laboratory and histo pathological findings can be misleading.
Fadwa Ghassan Hameed +3 more
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Clinical profile of enrolled 40 patients with Wilson’s disease.
, 2022 Clinical profile of enrolled 40 patients with Wilson’s disease.
Kiran Afshan (12969357) +4 more
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A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Molecular Genetics & Genomic Medicine, 2020 Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant +6 more
doaj +1 more source
Romanian Journal of Neurology, 2011 A disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13.
A. Hancu +5 more
doaj +1 more source
Demographic information of children with Wilson’s disease in Pakistan.
, 2022 Demographic information of children with Wilson’s disease in Pakistan.
Kiran Afshan (12969357) +4 more
core +1 more source
Annals of General Psychiatry, 2017 Background Wilson’s disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene ATP7B affecting the liver and nervous system.
Caroline Demily +9 more
doaj +1 more source
The spectrum of liver presentation in wilson's disease: a literature review
One Health & Risk Management, 2023 Introduction. Wilson's disease represents one of the genetic diseases that has lifelong treatment, which significantly improved the quality of life for patients and reduced the disabling complications associated with the lack of an early diagnosis ...
Adela TURCANU, Veronica CUMPATA
doaj +1 more source
Pregnancy With Wilson's Disease. [PDF]
Matern Fetal MedWilson’s disease is a rare, autosomal recessive disorder characterized by impaired liver metabolism of copper, leading to decreased biliary excretion and incorporation of ceruloplasmin levels mainly in the liver and brain.
Jin M, Zhou L, Lu C.
europepmc +2 more sources
High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence
BMC Medical Genetics, 2018 Background Wilson’s disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain.
Corinne Collet +5 more
doaj +1 more source
Wilson’s disease - a current approach to diagnostics and treatment. A literature review [PDF]
, 2023 Introduction and purpose Wilson’s disease is a rare autosomal recessive genetic disorder of copper metabolism. Its global genetic prevalence is estimated at around 1:30 000. However, in the case of many patients, it takes a long time to make a diagnosis,
Bętkowska, Paulina +9 more
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