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ATP7B variant spectrum in a French pediatric Wilson disease cohort

Archive ouverte | Couchonnal, Eduardo | CCSD

International audience. BACKGROUND/AIM: The spectrum of ATP7B variants varies significantly according to geographic distribution, and there is insufficient data on the variants observed in the French population. MET...

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France

Archive ouverte | Couchonnal, Eduardo | CCSD

International audience. OBJECTIVES: To describe a cohort of Wilson's disease (WD) paediatric cases, and to point out the diagnostic particularities of this age group and the long-term outcome. METHODS: Clinical data...

Long term results of liver transplantation for Wilson's disease: experience in France

Archive ouverte | Guillaud, Olivier | CCSD

International audience. BACKGROUND & AIMS: Liver transplantation (LT) is the therapeutic option for severe complications of Wilson's disease (WD). We aimed to report on the long-term outcome of WD patients following...

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