P417 WILSON DISEASE ATP7B GENE MUTATIONS IN EGYPTIAN CHILDREN: REPORT OF TWO NOVEL MUTATIONS

2014 ◽  
Vol 60 (1) ◽  
pp. S207
Author(s):  
F. El-Mougy ◽  
S. Sharaf ◽  
M. Elsharkawy ◽  
I. Mandour ◽  
R. Elessawy ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Gene Mutations ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Egyptian Children

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

2008 ◽  
Vol 53 (8) ◽  
pp. 681-687 ◽  
Author(s):  
Tawhida Y. Abdelghaffar ◽  
Solaf M. Elsayed ◽  
Ezzat Elsobky ◽  
Bettina Bochow ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Mutational Analysis ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Egyptian Children

Gene mutations in Wilson disease in Egyptian children: Report on two novel mutations

2014 ◽  
Vol 15 (3-4) ◽  
pp. 114-118 ◽  
Author(s):  
Fatma A. El-Mougy ◽  
Sahar A.A. Sharaf ◽  
Marwa M. Elsharkawy ◽  
Iman A. Mandour ◽  
Riham A. El-Essawy ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Gene Mutations ◽  
Novel Mutations ◽  
Egyptian Children

scholarly journals A Case Report and Literature Review of Wilson Disease

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Panpan Chen ◽  
Yingying Zhang ◽  
Linqing Qiu ◽  
Xinxin Yu
Keyword(s):  
Wilson Disease ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Hereditary Disease ◽  
Abnormal Liver Function ◽  
Atp7b Gene ◽  
Literature Reference ◽  
Urinary Copper

To investigate the clinical characteristics, auxiliary examination and treatment of Wilson’s disease(WD). The clinical data of a child with WD were summarized and analyzed comprehensively in conjunction with the literature reference. WD is a hereditary disease with a large age span, diverse early symptoms, high misdiagnosis rate, abnormal liver function, decreased ceruloplasmin, increased urinary copper, K-F rings, ATP7B gene mutation, ATP7B gene mutations, and abnormalities in abdominal and cranial brain imaging, which can be clearly diagnosed and require lifelong treatment. WD can be diagnosed according to the clinical manifestations and auxiliary examination to reduce misdiagnosis. The timely diagnosis and treatment will improve the prognosis the quality of life.

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease

2008 ◽  
Vol 73 (5) ◽  
pp. 441-452 ◽  
Author(s):  
L Gojová ◽  
E Jansová ◽  
M Külm ◽  
S Pouchlá ◽  
L Kozák
Keyword(s):  
Wilson Disease ◽  
Gene Mutations ◽  
Atp7b Gene ◽  
Novel Approach ◽  
Genotyping Microarray

PO19-WE-15 Molecular study of ATP7B gene mutations in Thai patients with Wilson disease

2009 ◽  
Vol 285 ◽  
pp. S269
Author(s):  
K. Taweechue ◽  
B. Panichareon ◽  
W. Thongnoppakhun ◽  
P. Yenchitsomanus ◽  
C. Limwongse
Keyword(s):  
Wilson Disease ◽  
Gene Mutations ◽  
Molecular Study ◽  
Atp7b Gene

Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications

2018 ◽  
Vol 39 (12) ◽  
pp. 1926-1941 ◽  
Author(s):  
Niti Kumari ◽  
Aman Kumar ◽  
Babu Ram Thapa ◽  
Manish Modi ◽  
Arnab Pal ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Mutation Spectrum ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Therapeutic Implications

scholarly journals PS-075 Genetic Counseling Of Wilson Disease In Egyptian Children: Evaluation Of Atp7b Gene Mutation As A Useful Tool

2014 ◽  
Vol 99 (Suppl 2) ◽  
pp. A139.1-A139
Author(s):  
E Salama ◽  
E Salama ◽  
F Tarek ◽  
H Hala ◽  
A Ayman ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Gene Mutation ◽  
Wilson Disease ◽  
Atp7b Gene ◽  
Egyptian Children

Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene

2007 ◽  
Vol 21 (1) ◽  
pp. 37-42 ◽  
Author(s):  
Philippe Chappuis ◽  
Jacques Callebert ◽  
Valérie Quignon ◽  
France Woimant ◽  
Jean-Louis Laplanche
Keyword(s):  
Wilson Disease ◽  
Atp7b Gene ◽  
French Population ◽  
Novel Mutations
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