نتایج جستجو برای: atp7b

تعداد نتایج: 482  

2010
Terence Young Gabrielle Downey Madhavi B Maheshwari David J Nicholl

Recurrent miscarriage is a less recognized feature of Wilson’s disease and adequate treatment can alter the outcome of pregnancies favourably. Wilson’s disease is a recessively inherited disorder of copper metabolism due to mutations in the ATP7B gene, which encodes for a coppertransporting P-type ATPase. Recurrent miscarriage is a complication of untreated Wilson’s disease. It has been reporte...

2014
Mani Kant Kumar Ramanuj Singh Ashutosh Anand Sujeet Kumar

Wilson's disease (WD) is a rare autosomal recessive inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The presentation is usually neurologic or hepatic, seen in 40% of patients. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring. Here a case of Wilson disease with various neurological...

2012
Beata Tarnacka

Wilson's disease (WD) is an inherited disorder of copper metabolism first defined by Dr Samuel Alexander Kinnier Wilson in 1912 (Wilson, 1912). WD is caused by mutations to the gene coding for ATPase copper transporting beta polypeptide (ATP7B), which is located on 13 chromosome 13 and expressed in the liver (Bull et al.,1993; Loudianos et al.,1999; Yamaguchi et al.,1993; Frydman et al., 1985)....

Journal: :The American Journal of Clinical Nutrition 1998

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