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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Hlavní autoři: Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu
Médium: Artigo
Jazyk:Inglês
Vydáno: Van Yuzuncu Yil University, School of Medicine 2019-04-01
Edice:Van Tip Dergisi
Témata:
cerebrotendinous xanthomatosis
cyp27a1 gene
polyneuropathy
xanthomas
On-line přístup:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-18863
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