Article
Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.
Clinica chimica acta; international journal of clinical chemistry - 15 Feb 2014
Martín-Campos Jesús M, Julve Josep, Roig Rosa, Martínez Susana, Errico Teresa Laura, Martínez-Couselo Silvia, Escolà-Gil Joan Carles, Méndez-González Jesús, Blanco-Vaca Francisco
Abstract excerpt
BACKGROUND: Familial chylomicronemia (type I hyperlipidemia) is a rare autosomal recessive disease due mainly to rare variants in the lipoprotein lipase (LPL) gene sequence. Molecular diagnosis of LPL deficiency is now a requirement for the first gene therapy treatment approved in the European Union. Altered coding sequence variants in APOC2, APOA5 or GPIHBP-1 can also cause familial chylomicronemia. Herein, we...
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