Article
Biochemical and molecular characterisation of neurological Wilson disease.
Journal of medical genetics - 1 Sept 2018
Seo Go Hun, Kim Yoon-Myung, Oh Seak Hee, Chung Sun Ju, Choi In Hee, Kim Gu-Hwan, Yum Mi-Sun, Choi Jin-Ho, Kim Kyung Mo, Ko Tae-Sung, Lee Beom Hee, Yoo Han-Wook
Abstract excerpt
BACKGROUND: To identify biochemical and genetic features that characterise neurological Wilson disease as a distinct disease subgroup. METHODS: Detailed biochemical profiles and genotypic characteristics of neurological (86 patients) and hepatic subgroups (233 patients) from 368 unrelated Korean families were analysed. RESULTS: Compared with patients in the hepatic subgroup, patients in the neurological subgroup...
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