Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to <i>CYP27A1</i> Gene Mutation with Chenodeoxycholic Acid Therapy.

Brlek, Petar; Bulic, Luka; Glavas Weinberger, David; Bosnjak, Jelena; Pavlovic, Tomislav; Tomic, Svetlana; Krivdic Dupan, Zdravka; Boric, Igor; Primorac, Dragan

Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy.

Brlek, Petar; Bulic, Luka; Glavas Weinberger, David; Bosnjak, Jelena; Pavlovic, Tomislav; Tomic, Svetlana; Krivdic Dupan, Zdravka; Boric, Igor; Primorac, Dragan.

Afiliação

Brlek P; St. Catherine Specialty Hospital, 10000 Zagreb, Croatia.
Bulic L; St. Catherine Specialty Hospital, 10000 Zagreb, Croatia.
Glavas Weinberger D; St. Catherine Specialty Hospital, 10000 Zagreb, Croatia.
Bosnjak J; St. Catherine Specialty Hospital, 10000 Zagreb, Croatia.
Pavlovic T; St. Catherine Specialty Hospital, 10000 Zagreb, Croatia.
Tomic S; Department of Health Studies, University of Split, 21000 Split, Croatia.
Krivdic Dupan Z; School of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.
Boric I; School of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.
Primorac D; University Hospital Centre, 31000 Osijek, Croatia.

Biomedicines ; 11(5)2023 May 12.

Article em En | MEDLINE | ID: mdl-37239101

Palavras-chave

ataxia; cerebrotendinous xanthomatosis; chenodeoxycholic acid; cholestanol; next-generation sequencing; xanthoma

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article