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...

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Hlavní autoři: Hager Barakizou, Souha Gannouni, Khalil Messaoui, Mathilde Difilippo, Agnès Sassolas, Fethi Bayoudh
Médium: Artigo
Jazyk:Inglês
Vydáno: SpringerOpen 2016-07-01
Edice:Egyptian Journal of Medical Human Genetics
Témata:
Abetalipoproteinemia
apoB-containing lipoproteins
Hypocholesterolemia
MTP gene mutations
On-line přístup:http://www.sciencedirect.com/science/article/pii/S1110863015001263
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