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

Kirk, Frederik Teicher; Munk, Ditte Emilie; Ek, Jakob; Birk Møller, Lisbeth; Bendixen Thorup, Mette; Hvid Danielsen, Erik; Vilstrup, Hendrik; Ott, Peter; Damgaard Sandahl, Thomas

Kirk, Frederik Teicher; Munk, Ditte Emilie; Ek, Jakob; Birk Møller, Lisbeth; Bendixen Thorup, Mette; Hvid Danielsen, Erik; Vilstrup, Hendrik; Ott, Peter; Damgaard Sandahl, Thomas.

Afiliação

Kirk FT; Department of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, Denmark.
Munk DE; Department of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, Denmark.
Ek J; Department of Genetics, Copenhagen University, Rigshospitalet, København, Denmark.
Birk Møller L; Department of Genetics, Copenhagen University, Rigshospitalet, København, Denmark.
Bendixen Thorup M; Department of Radiology and MR-center, Aarhus University Hospital, Aarhus, Denmark.
Hvid Danielsen E; Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.
Vilstrup H; Department of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, Denmark.
Ott P; Department of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, Denmark.
Damgaard Sandahl T; Department of Hepatology and Gastroenterology, Aarhus University Hospital, ERN Rare Liver, Aarhus, Denmark.

Front Neurol ; 13: 957794, 2022.

Article em En | MEDLINE | ID: mdl-36119696

Palavras-chave

Huppke-Brendel syndrome; SLC33A1; Wilson disease; case report; copper; neurology; rare disease

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: Front Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Dinamarca