Perspectives on Wilson's disease

Sternlieb, Irmin

doi:10.1002/hep.1840120526

Cited by 229 publications

(124 citation statements)

References 51 publications

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“…The diagnosis of WD was based primarily on clinical symptoms including the presence of K-F ring in the cornea, acute or chronic liver failure and/or typical neurological symptoms, and on biochemical parameters including low serum ceruloplasmin (o0.2 g l -1 ) and high-level excretion of urinary copper (4100 mg per 24 h). 9 A total of 200 healthy Chinese individuals were enrolled as a control group. Informed, written consent was obtained from all patients and controls for participation in this study.…”

Section: Materials and Methods Subjectsmentioning

confidence: 99%

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

et al. 2011

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Section: Materials and Methods Subjectsmentioning

confidence: 99%

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

et al. 2011

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“…The diagnosis of WD was established in the presence of at least two out of three of the following criteria: low ceruloplasmin level \20 mg/dl or the presence of KayserFleischer rings by slit-lamp examination and/or hepatic copper content of 250 lg/g dry weight liver tissue in the presence of hepatic or neurological manifestations consistent with WD (Sternlieb 1990). Liver involvement was ascertained based on clinical evaluation, liver function tests, ultrasonography, and liver biopsy when necessary.…”

Section: Methodsmentioning

confidence: 99%

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

et al. 2008

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The aim of this work was to study the mutations within ATP7B in Egyptian children with Wilson disease and to evaluate any potential correlation between genotype and phenotype in this cohort. The study consisted of 48 children with Wilson disease from 32 independent families. The 21 exons of the ATP7B gene were amplified in a thermal cycler. Direct sequencing of the amplified polymerase chain reaction (PCR) products was performed by cycle sequencing using fluorescent dye terminators in an automatic ABI sequencer. Thirty-one different mutations in 96 chromosomes were detected (19 missense, three nonsense, seven frameshift deletions, and two splice-site mutations).

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“…Patients with WND usually suffer from hepatic, neurologic and psychiatric complications. Most frequently findings associated with WND are low serum ceruloplasmin level, high concentrations of copper in liver and the presence of Kayser-Fleischer (KF) ring (Sternlieb, 1980(Sternlieb, , 1990. The worldwide prevalence of WND was reported to be 1 in 30,000 with a carrier ratio of 1 in 90 (Scheinberg and Sternlieb, 1984).…”

Section: Introductionmentioning

confidence: 99%

Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication

Naveed¹,

Majeed²,

Mansoor³

2010

IJB

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Wilson disease (WND) is an autosomal recessive disorder caused by mutation in ATP7B gene that impairs copper metabolism. ATP7B is involved in the transport of copper into the plasma protein ceruloplasmin and copper excretion out of the liver. Defects in ATP7B lead to excess of copper in various organs primarily in liver. The diagnosis of WND is more complex due to variations in its biochemical and clinical features and the broad range of disease onset. The objective of the present study was to establish molecular analysis system for screening of Wilson disease in Pakistani population. Three mutations were identified; with one being is a novel mutation never reported before.

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Perspectives on Wilson's disease

Cited by 229 publications

References 51 publications

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication

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