1.
Ann Gastroenterol
; 29(1): 96-8, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26752957
RESUMO
Diagnosis of Wilson's disease (WD) still remains a challenge since no single test has an accuracy of 100%. Molecular testing for ATP7B gene mutations can help reach the diagnosis when routine testing is equivocal. We herein report an asymptomatic WD patient diagnosed accidentally by genetic analysis. Th is case suggests that WD is a challenge even in particular contexts such as family screening. Genetic testing of ATP7B gene should be recommended in the family members of WD patients with minimal alterations of specific tests such as ceruloplasmin, and presence of steatosis or increased body mass index.
2.
J Pediatr Gastroenterol Nutr
; 63(2): e23-4, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25199035