title: [Familial hypobetalipoproteinemia: description of a heterozygous form with important biochemical alterations].
abstract: We describe a case of a patient affected of familial hypobetalipoproteinemia with marked biochemical alterations (low cholesterol and triglyceride levels) which are characteristic of the homocygote form and with no apparent clinical manifestations. The determination of Apoprotein B and the family study permitted the diagnosis of a heterocygote form.
authors.affiliation: Servicio de Endocrinología, Cátedra de Medicina Interna 1, Hospital Universitario de Granada.
authors.forename: M
authors.initials: M
authors.lastname: Muñoz Torres
authors.forename: A
authors.initials: A
authors.lastname: Cano Romera
authors.forename: S
authors.initials: S
authors.lastname: Domínguez
authors.forename: M D
authors.initials: MD
authors.lastname: Cano Parra
authors.forename: J A
authors.initials: JA
authors.lastname: Lobón
authors.forename: F
authors.initials: F
authors.lastname: Escobar Jiménez
mesh_terms: D000328:Adult; D002784:Cholesterol / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood* / Q000175:diagnosis / Q000235:genetics
chemical_list: D002784:Cholesterol
vernacular_title: Hipobetalipoproteinemia familiar: descripción de una forma heterocigota con importantes alteraciones bioquímicas.