Research from Koc University Hospital Has Provided New Data on Cerebrotendinous Xanthomatosis (Case Report and Current Literature Review of Adult Cerebrotendinous Xanthomatosis: Evaluation of Treatment Response Based on Gait Analysis Adult...).

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Zdroj: Genomics & Genetics Weekly; 11/29/2024, p1292-1292, 1p
Abstrakt: A recent study conducted at Koc University Hospital in Istanbul, Turkey, focused on cerebrotendinous xanthomatosis (CTX), a rare neurometabolic disease caused by a genetic mutation. The research highlighted the importance of early diagnosis and treatment of CTX, as it can lead to chronic neurological symptoms and physical manifestations. The study emphasized the effectiveness of chenodeoxycholic acid as a treatment option for CTX. For more information, readers can access the full article in the Haseki Tip Bulteni journal. [Extracted from the article]
Databáze: Complementary Index