scholarly journals New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Mária Ondrejkovičová ◽  
Sylvia Dražilová ◽  
Monika Drakulová ◽  
Juan López Siles ◽  
Renáta Zemjarová Mezenská ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Asymptomatic Patient ◽  
Wilson's Disease ◽  
Microcytic Anaemia ◽  
New Mutation

Analysis of the new mutation T1288R of the Wilson's disease ATP7B gene in four generations of a family

2006 ◽  
Vol 38 ◽  
pp. S94-S95
Author(s):  
L. Leggio ◽  
G. Loudianos ◽  
L. Abenavoli ◽  
A. Ferrulli ◽  
C. D'Angelo ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Atp7b Gene ◽  
New Mutation

New mutation (T1232P) of the ATP-7B gene associated with neurologic and neuropsychiatric dominance onset of Wilson’s disease in three unrelated Colombian kindred

2004 ◽  
Vol 367 (3) ◽  
pp. 360-364 ◽  
Author(s):  
Carlos Velez-Pardo ◽  
Marlene Jimenez Del Rio ◽  
Sonia Moreno ◽  
Liliana Ramı́rez-Gomez ◽  
Gonzalo Correa ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
New Mutation

A New Mutation of Wilson's Disease P-Type ATPase Gene in a Patient with Cirrhosis and Coombs-Positive Hemolytic Anemia

2006 ◽  
Vol 51 (1) ◽  
pp. 34-38 ◽  
Author(s):  
Lorenzo Leggio ◽  
Giovanni Addolorato ◽  
Georgios Loudianos ◽  
Ludovico Abenavoli ◽  
Maria Barbara Lepori ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
New Mutation ◽  
Atpase Gene ◽  
P Type

Massive hepatic haemosiderosis in Wilson's disease

2000 ◽  
Vol 37 (2) ◽  
pp. 187-189 ◽  
Author(s):  
P Luca ◽  
L Demelia ◽  
S Lecca ◽  
R Ambu ◽  
G Faa
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease

Wilson's disease and multiple sclerosis

2009 ◽  
Vol 40 (01) ◽  
Author(s):  
P Günther ◽  
W Hermann ◽  
A Wagner
Keyword(s):  
Multiple Sclerosis ◽  
Wilson’S Disease ◽  
Wilson's Disease

Different clinical presentation of Wilson's disease in identical twins

2015 ◽  
Vol 53 (05) ◽  
Author(s):  
D Németh ◽  
A Folhoffer ◽  
A Krolopp ◽  
S László ◽  
Z Gerlei ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Clinical Presentation ◽  
Wilson's Disease ◽  
Identical Twins

Neurophysiologic classification of Wilson's disease by using cluster analysis

2006 ◽  
Vol 37 (01) ◽  
Author(s):  
W Hermann ◽  
T Villmann ◽  
HJ Kühn ◽  
P Baum ◽  
G Reichel ◽  
...  
Keyword(s):  
Cluster Analysis ◽  
Wilson’S Disease ◽  
Wilson's Disease
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