article_metadata: Hamed Ghoshouni Roham Sarmadian Rana Irilouzadian Habibe Nejad Biglari Abolfazl Gilani
article_metadata: 10.1177/23247096231168109
article_metadata: J Investig Med High Impact Case Rep
article_metadata: 2023 Jan-Dec;11:23247096231168109.
article_metadata: cdg type iih cog8 gene ctx disorder cyp27a1 gene
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37083278/
article_metadata: Xanthomatosis, Cerebrotendinous / complications Xanthomatosis, Cerebrotendinous / diagnosis Xanthomatosis, Cerebrotendinous / genetics
article_metadata: Xanthomatosis, Cerebrotendinous / complications Xanthomatosis, Cerebrotendinous / diagnosis Xanthomatosis, Cerebrotendinous / genetics Case Reports Cholestanetriol 26-Monooxygenase / genetics Cholestanol / metabolism Cholesterol Humans Mutation Cholestanetriol 26-Monooxygenase Cholestanol Cholesterol
article_metadata: PMC10126670
article_metadata: 37083278
article_metadata: A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
article_metadata: 2023