A rare metabolic disease: cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2. The patient was diagnosed with epilepsy in our clinic for seven years and was diagnosed with cerebrotendinous xanthomatosis with a weakn...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu
Format: Artigo
Sprog:Inglês
Udgivet: Van Yuzuncu Yil University, School of Medicine 2019-04-01
Serier:Van Tip Dergisi
Fag:
cerebrotendinous xanthomatosis
cyp27a1 gene
polyneuropathy
xanthomas
Online adgang:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-18863
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker