The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis.

Guay, Simon-Pierre; Paquette, Martine; Poulin, Valérie; Levtova, Alina; Baass, Alexis; Bernard, Sophie

Guay, Simon-Pierre; Paquette, Martine; Poulin, Valérie; Levtova, Alina; Baass, Alexis; Bernard, Sophie.

Afiliação

Guay SP; Genetic Dyslipidemias Clinic, Montreal Clinical Research Institute, Montréal, Québec H2W 1R7, Canada.
Paquette M; Department of Medicine, Division of Endocrinology, Université de Montréal, Montréal, Québec H3T 1J4, Canada.
Poulin V; Genetic Dyslipidemias Clinic, Montreal Clinical Research Institute, Montréal, Québec H2W 1R7, Canada.
Levtova A; Genetic Dyslipidemias Clinic, Montreal Clinical Research Institute, Montréal, Québec H2W 1R7, Canada.
Baass A; Division of Medical Genetics, Department of Medecine, Centre Hospitalier de l'Université de Montréal (CHUM) and Université de Montréal, Montréal, Québec H2X 0C1, Canada.
Bernard S; Genetic Dyslipidemias Clinic, Montreal Clinical Research Institute, Montréal, Québec H2W 1R7, Canada.

JCEM Case Rep ; 2(2): luae004, 2024 Feb.

Article em En | MEDLINE | ID: mdl-38249444

Palavras-chave

Achilles tendon xanthoma; CYP27A1; cerebrotendinous xanthomatosis; chenodeoxycholic acid; cholestanol

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google