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...

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Detaylı Bibliyografya
Asıl Yazarlar: Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Van Yuzuncu Yil University, School of Medicine 2019-04-01
Seri Bilgileri:Van Tip Dergisi
Konular:
cerebrotendinous xanthomatosis
cyp27a1 gene
polyneuropathy
xanthomas
Online Erişim:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-18863
Etiketler: Etiketle
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