Lanean...

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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Hager Barakizou, Souha Gannouni, Khalil Messaoui, Mathilde Difilippo, Agnès Sassolas, Fethi Bayoudh
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: SpringerOpen 2016-07-01
Saila:Egyptian Journal of Medical Human Genetics
Gaiak:
Sarrera elektronikoa:http://www.sciencedirect.com/science/article/pii/S1110863015001263
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!