A family study of the biochemical defects in Wilson's disease.

The biochemical diagnosis of Wilson's disease in Iran

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...

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...

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...

Hereditary whispering dysphonia.

An Australian family group is described where at least twenty members have inherited torsion dystonia and two siblings with an affected mother have similar clinical manifestations, but have also the biochemical and pathological changes found in Wilson's disease. Whispering dysphonia was the commonest presenting symptom, and a diagnosis of hysteria was invariably made if the family history was n...