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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Main Authors: Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu
Formato: Artigo
Idioma:Inglês
Publicado: Van Yuzuncu Yil University, School of Medicine 2019-04-01
Series:Van Tip Dergisi
Assuntos:
cerebrotendinous xanthomatosis
cyp27a1 gene
polyneuropathy
xanthomas
Acceso en liña:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-18863
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