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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Van Yuzuncu Yil University, School of Medicine 2019-04-01
Cyfres:Van Tip Dergisi
Pynciau:
cerebrotendinous xanthomatosis
cyp27a1 gene
polyneuropathy
xanthomas
Mynediad Ar-lein:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-18863
Tagiau: Ychwanegu Tag
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