Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient

Abetalipoproteinemia (ABL), or Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy and acanthocytosis. We report the case of a Tunisian male child born from...

Full description

Saved in:
Bibliographic Details
Main Authors: Hager Barakizou, Souha Gannouni, Khalil Messaoui, Mathilde Difilippo, Agnès Sassolas, Fethi Bayoudh
Format: Artigo
Language:Inglês
Published: SpringerOpen 2016-07-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Abetalipoproteinemia
apoB-containing lipoproteins
Hypocholesterolemia
MTP gene mutations
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863015001263
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items