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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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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Van Yuzuncu Yil University, School of Medicine
2019-04-01
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| シリーズ: | Van Tip Dergisi |
| 主題: | |
| オンライン･アクセス: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-18863 |
| タグ: |
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