Research Article
Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease
Table 1
Demographic and clinical characteristics of the patients.
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KFR: Kayser-Fleischer ring; Neu: neurological signs and/or CT/MRI alterations; HA: hemolytic anemia; Urin Cu: urinary copper, 1-2X ULN: +, >2x ULN or positive D-penicillamine challenge: ++; Cerul: ceruloplasmin, P: present; A: absent; ND: not done; S: sibling; H1: acute liver failure; H2: chronic liver disease; N1: neurological symptoms with liver disease; N2: only neurological symptoms. According to the international score system, 4 or more scores, diagnosis of WD is highly likely. Rhodanine positivity. |