Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report. [PDF]
Oyama Y +5 more
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Vitamin D-Related Genetic Variations and Nonalcoholic Fatty Liver Disease: A Systematic Review. [PDF]
Jaroenlapnopparat A +3 more
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Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX. [PDF]
Del Monte MA, Hanson J, Bonnen PE.
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GutBugDB: a web resource to predict the human gut microbiome-mediated biotransformation of biotic and xenobiotic molecules. [PDF]
Longwani U +4 more
europepmc +1 more source
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition. [PDF]
O'Keefe E, Kiernan M, Huynh W.
europepmc +1 more source
TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1. [PDF]
Wang X +8 more
europepmc +1 more source
Optimization of CYP27A1 recombinant protein expression. [PDF]
Papa JE +5 more
europepmc +1 more source
Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report. [PDF]
Koyama S +8 more
europepmc +1 more source
Genetic association and computational analysis of CYP2R1 gene polymorphisms rs2060793 and rs12794714 with vitamin D deficiency and acute myocardial infarction in the Bangladeshi population: A case control study. [PDF]
Akter S +6 more
europepmc +1 more source
A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report. [PDF]
Min JH, Kim YS, Son MJ, Joo IS.
europepmc +1 more source

