Familial Chylomicronemia Syndrome With a Novel Homozygous LPL Mutation Identified in Three Siblings in Their 50s.

Ueda, Masako; Burke, Frances M; Remaley, Alan T; Hegele, Robert A; Rader, Daniel J; Dunbar, Richard L

Ueda, Masako; Burke, Frances M; Remaley, Alan T; Hegele, Robert A; Rader, Daniel J; Dunbar, Richard L.

Afiliación

Ueda M; University of Pennsylvania, Philadelphia, Pennsylvania (M.U.).
Burke FM; University of Pennsylvania Health System, Philadelphia, Pennsylvania (F.M.B.).
Remaley AT; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland (A.T.R.).
Hegele RA; Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada (R.A.H.).
Rader DJ; University of Pennsylvania and University of Pennsylvania Health System, Philadelphia, Pennsylvania (D.J.R.).
Dunbar RL; University of Pennsylvania and Corporal Michael J. Crescenz VA Medical Center, Philadelphia, Pennsylvania (R.L.D.).

Ann Intern Med ; 172(7): 500-502, 2020 04 07.

Article en En | MEDLINE | ID: mdl-31739313

Asunto(s)

Hiperlipoproteinemia Tipo I/genética; Lipoproteína Lipasa/genética; Consanguinidad; Diagnóstico Diferencial; Femenino; Genotipo; Homocigoto; Humanos; Masculino; Persona de Mediana Edad; Mutación; Linaje; Fenotipo; Hermanos

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Lipoproteína Lipasa / Hiperlipoproteinemia Tipo I Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male / Middle aged Idioma: En Revista: Ann Intern Med Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos

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