نتایج جستجو برای: wilson disease

تعداد نتایج: 1505835  

Journal: :Lipids in Health and Disease 2011

Journal: :Annals of Translational Medicine 2019

2016
Soofia Khan Michael Schilsky Gary Silber Bruce Morgenstern Tamir Miloh

The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal disease such as Alport syndrome. Proteinuria can lead to low ceruloplasmin since it is among serum proteins inappropriately filtered by the damaged glomerulus, and can also lead to increased ur...

Journal: :Clinical chemistry 2008
Chloe M Mak Ching-Wan Lam Sidney Tam

BACKGROUND A serum ceruloplasmin concentration below 0.20 g/L is conventionally considered as one of the major diagnostic criteria for Wilson disease. This decision threshold has not been fully validated for its diagnostic characteristics, however. In this study, we evaluated various decision thresholds of serum ceruloplasmin concentration in the diagnosis of Wilson disease based on genotype-ve...

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