Ontology highlight
ABSTRACT:
SUBMITTER: Di Filippo M
PROVIDER: S-EPMC3276478 | biostudies-literature | 2012 Mar
REPOSITORIES: biostudies-literature
Di Filippo Mathilde M Créhalet Hervé H Samson-Bouma Marie Elisabeth ME Bonnet Véronique V Aggerbeck Lawrence P LP Rabès Jean-Pierre JP Gottrand Frederic F Luc Gérald G Bozon Dominique D Sassolas Agnès A
Journal of lipid research 20120111 3
Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient with an unusual clinical and biochemical ABL phenotype. She presented with severe liver injury, low levels of LDL-cholesterol, and subnormal levels of vitamin E, but only mild fat malabsorption and no retinitis pigment ...[more]