|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Plasma ceruloplasmin was investigated in both the Atp7b-/- mouse model and human patients; it was significantly decreased in the human form of WD only.
|
31815268 |
2020 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Clinicians must recognise limitations in ceruloplasmin and copper levels when screening for WD and maintain suspicion for WD in young patients, even if there is an already established aetiology of liver disease.
|
31653639 |
2019 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Classical tests [serum copper, serum ceruloplasmin (Cp), urinary copper] have their own limits, and they are often insufficient to diagnose or exclude WD.
|
31179307 |
2019 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In the current study, we achieved a positive correlation between clinical symptoms and the enzymatic activity of ceruloplasmin in WD patients.
|
31547461 |
2019 |
|
Hepatolenticular Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, p.(Gly14Ser) was seen with an early onset age, reduced serum ceruloplasmin level and manifestations of liver and brain in a WD patient unlike the other having identical ATP7B mutation but normal ATOX1 alleles.
|
30980273 |
2019 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Biochemical abnormalities such as serum ceruloplasmin and 24-h urinary copper excretion are important for the diagnosis but are not always abnormal in WD.They can overlap with non-WD causes.
|
31421978 |
2019 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
This diagnosis of hypophosphatasia in this case was complicated by a serum ceruloplasmin concentration at the lower end of the reference interval leading to the genetic testing for Wilson's disease.
|
29958879 |
2018 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The mean serum CP level in patients with WD was 50.6±44.2 mg/L, which was significantly lower than that in non-WD patients (293.2±117.3 mg/L, p<0.001).
|
29324775 |
2018 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Afterwards, additional laboratory findings revealed that serum ceruloplasmin levels were reduced, urinary copper levels were greatly elevated and Wilson's disease (WD)-specific routine tests were positive, but the Kayser-Fleischer ring was not clear.
|
29375214 |
2018 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The level of serum ceruloplasmin and copper of WD patients with neuropsychiatric form was higher than that of male patients with hepatic or presymptomatic form.
|
30356741 |
2018 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
The hepcidin/ferroportin system was used to classify genetic iron overload syndromes in Japan, and ceruloplasmin and ATP7B were introduced for subtyping Wilson disease into the severe hepatic and classical forms.
|
29882374 |
2018 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
All the subjects underwent a physical examination, Kayser-Fleischer (K-F) rings in the cornea, abdominal ultrasonography (Abdl Ur), cranial magnetic resonance imaging (MRI), serum ceruloplasmin, serum copper, 24-hour urine copper, blood alanine transaminase (ALT) and aspartate transaminase (AST), and ATP7B gene.Two new patients with presymptomatic WD (1 mother and 1 brother) in 2 families were found by screening.
|
29979436 |
2018 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We describe a male case of Wilson's disease diagnosed at 10 years after routine biochemical test that showed low serum ceruloplasmin levels and Kayser-Fleischer rings in both corneas.
|
29649982 |
2018 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We report a unique case of late-onset WD in which the ceruloplasmin level and 24-h urinary copper excretion were all normal.
|
29644160 |
2018 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Abnormal handling of copper is the cause of Wilson disease (WD), a rare disorder typified by increased levels in plasma copper not-bound to ceruloplasmin (nCp-Cu, also known as 'free' copper).
|
29173477 |
2018 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Several previous pilot studies measuring ceruloplasmin (CP) in infants or children showed that this marker alone was insufficient to meet the universal screening for WD.
|
27935710 |
2017 |
|
Hepatolenticular Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we report on a case of a 47-year-old male H1069Q homozygous, Kayser-Fleischer ring positive WD patient with a low ceruloplasmin level who was followed up and treated with chelating agents throughout nine years.
|
28922444 |
2017 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper.
|
28433109 |
2017 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
CTD_human |
The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease.
|
23519153 |
2013 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
We present a 28-year-old woman with a diagnosis of Niemann-Pick type C disease which was initially diagnosed as Wilson disease due to low serum ceruloplasmin and elevated free copper.
|
22269206 |
2012 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
CTD_human |
Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia.
|
22243965 |
2012 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
The basis of diagnosis of neurologic WD was clinical, Kayser-Fleischer (KF) ring, and ceruloplasmin.
|
20739809 |
2010 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Elevated aminotransferases, jaundice, an elevated international normalized ratio, and confusion were typical of idiopathic ALF, and a low serum ceruloplasmin level initially led to a misdiagnosis of acute Wilson disease.
|
20818742 |
2010 |
|
Hepatolenticular Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
|
20082719 |
2010 |
|
Hepatolenticular Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Serum ceruloplasmin and 24-hour urinary copper examinations could be used to rule out WD in children with chronic hepatitis and hemolytic anemia.
|
20417464 |
2010 |