Review on Wilson's Disease
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منابع مشابه
Hypoparathyroidism as a rare manifestation of Wilson,s disease: a case report
A 13 years old girl was admitted to the pediatric ward of hospital No 1 of Kerman university of medical sciences because of crampy pains, pins and needles sensation of the extremities and history of an episode of seizure. Her problem started one week prior to admission with pain in the leg muscles, flexion of the fingers followed by seizure. On physical examination, the prominent finding inclu...
متن کاملGenetics of Wilson's disease: a clinical perspective.
Hepatic Wilson's disease is often a difficult diagnosis to confirm. This review examines the current role of genetic tests for Wilson's disease and is aimed at clinicians caring for patients with this disease. We discuss how genetic testing is carried out for Wilson's disease, indications for these tests, and genetic counseling for the family. In contrast to the advances in diagnosis of Wilson'...
متن کاملWilson's disease--a review of cases at University Hospital, Kuala Lumpur.
The clinical course of 18 patients with Wilson's disease is reported. There were 13 males and five females of whom one is Malay. The prevalence of Wilson's disease in Malaysia is probably the same as elsewhere. Being a genetic syndrome, the genetic carrier rate for Wilson's disease is probably lower amongst the Malays. At diagnosis, the clinical signs were predominantly hepatic in 10 patients, ...
متن کاملWilson's disease: the 60th anniversary of Walshe's article on treatment with penicillamine.
This historical review describes Professor Walshe's seminal contribution to the treatment of Wilson's disease on the 60th anniversary of his pioneering article on penicillamine, the first effective treatment for the condition.
متن کاملObservations on ceruloplasmin in Wilson's disease.
In the light of present knowledge hepatolenticular degeneration is classified as a metabolic disease, probably based on an inborn error of metabolism and transmitted by an autosomal recessive gene. The biochemical manifestations of Wilson's disease have been studied extensively and were summarized in several recent reviews (1-4). The findings point to aberrations in copper and protein metabolis...
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تاریخ انتشار 2004