Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years

BACKGROUND: Huppke–Brendel (HB) syndrome is an autosomal recessive disease caused by variants in the SLC33A1 gene. Since 2012, less than ten patients have been reported, none survived year six. With neurologic involvement and ceruloplasmin deficiency, it may mimic Wilson disease (WD). OBJECTIVES AND...

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Detalles Bibliográficos
Autores principales: Kirk, Frederik Teicher, Munk, Ditte Emilie, Ek, Jakob, Birk Møller, Lisbeth, Bendixen Thorup, Mette, Hvid Danielsen, Erik, Vilstrup, Hendrik, Ott, Peter, Damgaard Sandahl, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9475109/
https://www.ncbi.nlm.nih.gov/pubmed/36119696
http://dx.doi.org/10.3389/fneur.2022.957794

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