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We began analyzing https://link.springer.com/article/10.1007/s12264-017-0107-4, but it redirected us to https://link.springer.com/article/10.1007/s12264-017-0107-4. The analysis below is for the second page.

Title[redir]:
Wilson’s Disease in China | Neuroscience Bulletin
Description:
Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. Its incidence is higher in China than in western countries. ATP7B is the causative gene and encodes a P-type ATPase, which participates in the synthesis of holoceruloplasmin and copper excretion. Disease-causing variants of ATP7B disrupt the normal structure or function of the enzyme and cause copper deposition in multiple organs, leading to diverse clinical manifestations. Given the variety of presentations, misdiagnosis is not rare. Genetic diagnosis plays an important role and has gradually become a routine test in China. The first Chinese spectrum of disease-causing mutations of ATP7B has been established. As a remediable hereditary disorder, most WD patients have a good prognosis with an early diagnosis and chelation treatment. However, clinical trials are relatively few in China, and most treatments are based on the experience of experts and evidences from other countries. It is necessary to study and develop appropriate regimens specific for Chinese WD patients.

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Keywords {🔍}

google, scholar, disease, article, pubmed, cas, chinese, wilson, wilsons, wang, chin, med, abstract, atpb, patients, clinical, english, copper, gene, yang, degeneration, hepatolenticular, china, central, brain, analysis, diagnosis, study, chen, neurol, zhang, mutations, han, mutation, lin, genet, huang, treatment, population, cheng, dong, liang, correlation, liu, privacy, cookies, content, research, manifestations, genetic,

Topics {✒️}

zhi-ying wu month download article/chapter susceptibility-weighted imaging manifestations short-term decoppering therapy site-directed mutant variants full article pdf article xie related subjects privacy choices/manage cookies copper metabolism gene cellular copper tolerance van oost ba mammalian mitochondrial complex gene arg778leu mutation low-copper diet free copper levels european economic area p-type atpase dimercaptosuccinic acid capsule isolated persistent elevation yeast saccharomyces cerevisiae duff canning sj alternative splice variants heavy metal poisoning sodium dimercapto-sulphonate zhejiang university school splice-site mutation atp7b gene mutation conditions privacy policy autosomal recessive disorder remediable hereditary disorder short-term effect collaborative innovation center article log xie cl disease-causing variants progressive lenticular degeneration purebred dog population accepting optional cookies wu zy pre-symptomatic wilson qiu yl wilson disease gene genetic diagnosis plays diverse clinical manifestations brain hydroxyl radical author information authors china review published article cite liver transplantation

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      description:Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. Its incidence is higher in China than in western countries. ATP7B is the causative gene and encodes a P-type ATPase, which participates in the synthesis of holoceruloplasmin and copper excretion. Disease-causing variants of ATP7B disrupt the normal structure or function of the enzyme and cause copper deposition in multiple organs, leading to diverse clinical manifestations. Given the variety of presentations, misdiagnosis is not rare. Genetic diagnosis plays an important role and has gradually become a routine test in China. The first Chinese spectrum of disease-causing mutations of ATP7B has been established. As a remediable hereditary disorder, most WD patients have a good prognosis with an early diagnosis and chelation treatment. However, clinical trials are relatively few in China, and most treatments are based on the experience of experts and evidences from other countries. It is necessary to study and develop appropriate regimens specific for Chinese WD patients.
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