Diversas enfermedades que constituyen problemas para la salud humana a nivel mundial,
son el resultado de fallos en la homeostasis del cobre en la célula. El mecanismo de …

Wilson disease (WD) is a rare autosomal recessive disorder characterized by excessive
copper deposition in the body, principally in the liver and the brain. There is a wide spectrum …

Abstract Wilson's Disease (WD), an ATP7B-mutated inherited disease that affects copper
transport, is characterised by liver and nervous system manifestations. Long non-coding (ln …

Wilson disease (WD) is caused by mutations in the gene for ATP7B, a copper transport
protein that regulates copper levels in cells. A large number of missense mutations have …

Relationship between genetic mutations and clinical phenotyp... : Medicine Relationship between
genetic mutations and clinical phenotypes in patients with Wilson disease : Medicine Log in or …

Wilson disease is usually present at age 5–35 but has been diagnosed clinically at ages 3–
74. Genetic testing allows even earlier detection. The delay from first symptom to diagnosis …

背景肝豆状核变性(WD) 是常染色体隐性遗传性铜代谢障碍性疾病, 其病变基础为ATP7B
基因突变导致铜代谢紊乱, 进行性肝病及神经系统症状是其常见特征. 目前单纯采用西医治疗 …

Abstract Background Wilson disease (OMIM# 277900) is a autosomal recessive disorder
characterized by accumulation of copper in liver and brain. The accumulation of copper …

Diversas enfermedades que constituyen problemas para la salud humana a nivel mundial,
son el resultado de fallos en la homeostasis del cobre en la célula. El mecanismo de …

Wilson's disease is characterized by the accumulation of copper mainly in the liver. It is
transmitted with an autosomal recessive inheritance pattern. The molecular cause is …