scholarly journals DETECTION OF THE HETEROZYGOUS CARRIER OF THE WILSON'S DISEASE GENE*

1961 ◽  
Vol 40 (4) ◽  
pp. 707-715 ◽  
Author(s):  
Irmin Sternlier ◽  
Anatol G. Morell ◽  
Charles D. Bauer ◽  
Burton Combes ◽  
Shirley De Bobes-Sternberg ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Disease Gene ◽  
Wilson's Disease ◽  
Heterozygous Carrier

Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease

2012 ◽  
Vol 29 (4) ◽  
pp. 913-919 ◽  
Author(s):  
Serena Bucossi ◽  
Renato Polimanti ◽  
Stefania Mariani ◽  
Mariacarla Ventriglia ◽  
Cristian Bonvicini ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Wilson’S Disease ◽  
Disease Gene ◽  
Wilson's Disease

Wilson’s Disease Presenting With Haematuria and Swelling

2012 ◽  
Vol 23 (1) ◽  
pp. 51-52
Author(s):  
Pradip Kumar Dutta ◽  
Syed Md Jabed ◽  
Md Abul Kashem ◽  
Saibal Das ◽  
Md Nurul Huda
Keyword(s):  
Fanconi Syndrome ◽  
Wilson’S Disease ◽  
Disease Gene ◽  
Wilson's Disease ◽  
Late Diagnosis ◽  
Nephritic Syndrome ◽  
Rare Manifestation ◽  
Acute Nephritic Syndrome

Wilson’s disease gene located in Chromosime 3 is also expressed in Kidneys. So Wilson’s disease may have renal manifestations either as primary even or secondarily as Hepato renal syndrome. Patients commonly manifest as Fanconi syndrome or Urolithiasis. Haematuria and proteinuria is a rare manifestation. Here we are presenting a case who initially presented with haematuria and proteinuria (Acute nephritic syndrome) which masked features of Wilson’s disease and late diagnosis. JCMCTA 2012; 23(1): 51-52

Deletion of the Wilson's disease gene in hereditary hepatitis LEC rats

1995 ◽  
Vol 70 (1) ◽  
pp. 25-33
Author(s):  
Takao ONO ◽  
Risaku FUKUMOTO ◽  
Yasumitsu KONDOH ◽  
Michihiro C. YOSHIDA
Keyword(s):  
Wilson’S Disease ◽  
Disease Gene ◽  
Wilson's Disease ◽  
Lec Rats

scholarly journals Deletion of the Wilson's disease gene in hereditary hepatitis LEC rats.

1995 ◽  
Vol 70 (1) ◽  
pp. 25-33 ◽  
Author(s):  
Takao ONO ◽  
Risaku FUKUMOTO ◽  
Yasumitsu KONDOH ◽  
Michihiro C. YOSHIDA
Keyword(s):  
Wilson’S Disease ◽  
Disease Gene ◽  
Wilson's Disease ◽  
Lec Rats

Use of a Stable Copper Isotope (65Cu) in the Differential Diagnosis of Wilson's Disease

1995 ◽  
Vol 88 (6) ◽  
pp. 727-732 ◽  
Author(s):  
T. D. B. Lyon ◽  
G. S. Fell ◽  
D. Gaffney ◽  
B. A. McGaw ◽  
R. I. Russell ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Stable Isotope ◽  
Confidence Interval ◽  
Wilson’S Disease ◽  
Disease Gene ◽  
Wilson's Disease ◽  
Half Time ◽  
Control Subjects ◽  
Plasma Pool ◽  
Biological Half Time

1. 65Cu/63Cu stable-isotope ratios have been measured in blood serum after oral administration of the stable isotope 65Cu. The incorporation of the isotope into the plasma protein pool was followed at various times for up to 3 days. The resulting patterns of enrichment in healthy control subjects, in Wilson's disease patients and in heterozygotes for the Wilson's disease gene, were similar in appearance to those found by others using copper radioactive isotopes. After an initially high enrichment at 2h after dosage, the Wilson's disease cases, in contrast to the control subjects, did not show a secondary rise in isotope enrichment of the plasma pool after 72 h, demonstrating a failure to incorporate copper into caeruloplasmin. The Wilson's disease heterozygotes had variable degrees of impairment of isotope incorporation, not always distinguished from those of control subjects. 2. The stability of the isotope also permits the copper tracer to be followed for a longer period. Ten healthy subjects were studied for over 40 days, allowing the biological half-time of an oral dose of copper to be determined (median 18.5 days, 95% confidence interval 14–26 days). Known heterozygotes for the Wilson's disease gene were found to have a significantly increased biological half-time for removal of copper from the plasma pool (median 43 days, 95% confidence interval 32–77 days). 3. The incorporation of 65Cu in patients with diseases of the liver (other than Wilson's disease) was found to be similar to that in control subjects, aiding differential diagnosis.

Wilson's disease gene is homologous to hts causing abnormal copper transport in Long-Evans Cinnamon rats

1994 ◽  
Vol 107 (4) ◽  
pp. 1189-1192 ◽  
Author(s):  
Youji Muramatsu ◽  
Takahisa Yamada ◽  
Midori Miura ◽  
Tohru Sakai ◽  
Yasuo Suzuki ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Disease Gene ◽  
Wilson's Disease ◽  
Copper Transport ◽  
Long Evans
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