Wilson's disease in Taiwan.

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...

راشی‌تیسم مقاوم به درمان به عنوان اولین تظاهر بیماری ویلسون (یک مورد نادر)

Rickets by definition is a condition in which the bone mineralization is defective. Among the large cause of Rickets (Vitamin D deficiency, gastrointestinal disorders, acidosis, renal tubular abnormalities...), Wilson's disease is a relatively rare cause. There are few cases of Wilson's disease presenting first as rickets in the literature. ‎ Here we present an Afghan girl with Wilson's disea...

The biochemical diagnosis of Wilson's disease in Iran

Novel mutations in ATP7B gene of Wilson\'s disease in Iranian patients

Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...

Diagnosis of Wilson's disease: an experience over three decades.

BACKGROUND Wilson's disease is a rare but treatable condition that often presents diagnostic dilemmas. These dilemmas have for the most part not been resolved by the identification and cloning of the Wilson's disease gene. AIMS To report our experience over three decades with patients with Wilson's disease in order to illustrate the diverse patterns of presentation and thereby broaden the app...