Ontology highlight
ABSTRACT:
SUBMITTER: Najah M
PROVIDER: S-EPMC3632489 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Najah Mohamed M Youssef Sarraj Mohamed SM Yahia Hrira Mohamed HM Afef Slimani S Awatef Jelassi J Saber Hammami H Fadhel Najjar Mohamed NM Sassolas Agnès A Naceur Slimane Mohamed SM
Diagnostic pathology 20130404
<h4>Background</h4>Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investigated two unrelated Tunisian patients, born from consanguineous marriages, with severe deficien ...[more]