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Mashup Score: 1Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis - 1 year(s) ago
Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aimed to identify metabolic aberrations that drive ongoing neurodegeneration in some patients with CTX despite chenodeoxycholic acid (CDCA)…
Source: Journal of Lipid ResearchCategories: Latest Headlines, NeurologyTweet
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Mashup Score: 1The role of farnesoid X receptor in metabolic diseases, and gastrointestinal and liver cancer - 3 year(s) ago
Farnesoid X receptor (FXR) is involved in the control of bile acid synthesis and enterohepatic circulation. This Review discusses the role of FXR in metabolic diseases and gastrointestinal and liver cancers, highlighting underlying mechanisms and potential therapeutic targets.
Categories: Gastroenterology, Latest HeadlinesTweet
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Mashup Score: 2Fecal Bile Acid Testing in Assessing Patients With Chronic... : American Journal of Gastroenterology - 4 year(s) ago
completed 48-hour fecal BA testing, we analyzed the symptoms, diagnostic tests performed, and final diagnoses. RESULTS: After 135 patients were excluded because of mucosal diseases, increased BA excretion was identified in 476 (51%) of the 936 patients with CUD: 29% with selective increase in primary BA and 22% with increased total BA excretion (35% with normal primary BA excretion). There were…
Source: LWWCategories: Gastroenterology, Latest HeadlinesTweet
"Metabolic profiling in serum, cerebrospinal fluid and brain of patients with Cerebrotendinous xanthomatosis" – #BileAcid #Metabolism #Cholesterol #CSF #TeamMassSpec https://t.co/KGtZ17uGqF @uni_tue