Journal ArticleDOI
Wilson disease: description of 282 patients evaluated over 3 decades.
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TLDR
Despite increased awareness and recognition and significant inroads into therapeutic frontiers, follow-up remains poor in developing countries and a return to previous level of functioning is not universal.About:
This article is published in Medicine.The article was published on 2007-03-01. It has received 218 citations till now.read more
Citations
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Wilson's Disease
TL;DR: The discovery of the Wilson's disease gene has opened up a new molecular diagnostic approach, and could form the basis of future gene therapy.
Journal ArticleDOI
Wilson's disease and other neurological copper disorders.
TL;DR: Disordered copper metabolism is also associated with other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations and the late-onset neurodegenerative disorders Alzheimer's disease and Parkinson's disease.
Journal ArticleDOI
Interactions of iron, dopamine and neuromelanin pathways in brain aging and Parkinson's disease.
Fabio A. Zucca,Juan Segura-Aguilar,Emanuele Ferrari,Patricia Muñoz,Irmgard Paris,David Sulzer,Tadeusz Sarna,Luigi Casella,Luigi Zecca +8 more
TL;DR: Considering the above issues, age‐related accumulation of neuromelanin in dopamine neurons shows an interesting link between aging and neurodegeneration.
Journal ArticleDOI
Neurologic Wilson's disease
TL;DR: Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease.
Journal ArticleDOI
A genetic study of Wilson’s disease in the United Kingdom
Alison J. Coffey,Miranda Durkie,Stephen Hague,Kirsten McLay,Kirsten McLay,Jennifer Emmerson,Christine Lo,Stefanie Klaffke,Christopher J. Joyce,Anil Dhawan,Nedim Hadzic,Giorgina Mieli-Vergani,Richard Kirk,K Elizabeth Allen,David Nicholl,Siew L. Wong,William Griffiths,Sarah F. Smithson,Nicola Giffin,Ali S. Taha,Sally Connolly,Godfrey T. Gillett,Stuart Tanner,James R. Bonham,Basil Sharrack,Aarno Palotie,Magnus Rattray,Ann Dalton,Oliver Bandmann +28 more
TL;DR: The genetic prevalence of Wilson's disease in the United Kingdom and the marked discrepancy between the genetic prevalence and the number of clinically diagnosed cases may be due to both reduced penetrance of ATP7B mutations and failure to diagnose patients with this eminently treatable disorder.
References
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Journal ArticleDOI
Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver
Journal ArticleDOI
Penicillamine, a new oral therapy for Wilson's disease
TL;DR: A new form of oral treatment with dimethyl cysteine (penicillamine) is described, given in doses varying from 0.5 to 1.5 gm.
Journal ArticleDOI
Wilson's disease in patients presenting with liver disease: A diagnostic challenge
P. Steindl,Peter Ferenci,H P Dienes,Georg Grimm,Ingrid Pabinger,Christian Madl,Theresia Maier-Dobersberger,A. M. Herneth,Brigitte Dragosics,Siegfried Meryn,P. Knoflach,G Granditsch,Alfred Gangl +12 more
TL;DR: The commonly used clinical and laboratory parameters are not sufficient to exclude the diagnosis of Wilson's disease in patients with liver disease of unknown origin.
Journal ArticleDOI
Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy.
TL;DR: A patient with Wilson's disease is described who presented with neurologic disease, was treated with D-penicillamine, and suffered sudden neurologic deterioration coincident with therapy, suggesting that the cause of this distressing syndrome occurs frequently.