Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report. [PDF]
BMC Neurol, 2022 Koyama S +8 more
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Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition. [PDF]
Eur J NeurolO'Keefe E, Kiernan M, Huynh W.
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Optimization of CYP27A1 recombinant protein expression. [PDF]
Protein Expr PurifPapa JE +5 more
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A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report. [PDF]
J Med Case RepMin JH, Kim YS, Son MJ, Joo IS.
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Metabolomics analysis of milk thistle lipids to identify drought-tolerant genes. [PDF]
Sci Rep, 2022 Ghanbari Moheb Seraj R +6 more
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Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews. [PDF]
Mol Genet MetabHanson J, Bonnen PE.
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Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression. [PDF]
PLoS OneZhao X +6 more
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Association of CYP2R1 and VDR Polymorphisms with Metabolic Syndrome Components in Non-Diabetic Brazilian Adolescents. [PDF]
Nutrients, 2022 Araújo EPDS +5 more
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Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study. [PDF]
BiomoleculesAbouzid M +8 more
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Cerebrotendinous xanthomatosis with radiological abnormalities of the chest. [PDF]
BMJ Case Rep, 2021 Zaizen Y +3 more
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