Primary Familial Xanthomatosis and Biliary Xanthomatosis (Biliary Cirrhosis with Xanthomatosis)1
Journal of Investigative Dermatology, 1950 Lever, Walter F., MacLean, James G.
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Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time. [PDF]
Indian Dermatol Online JSuresh P, Dev PP, Khunger N, Sharma S.
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A Novel Compound Heterozygous <i>CYP27A1</i> Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family. [PDF]
Mol SyndromolCesur Baltacı HN +5 more
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Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX. [PDF]
Orphanet J Rare DisDel Monte MA, Hanson J, Bonnen PE.
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Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns. [PDF]
NPJ Genom MedHuang Y +10 more
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Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings. [PDF]
Radiol Case RepKhan HG +7 more
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Device-Aided Treatment of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]
Mov Disord Clin PractSalamon A +3 more
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Xanthomatosis Coli Associated With Nontuberculous Mycobacterial Disease. [PDF]
Gastro Hep AdvMasuda N, Yamazaki K, Kushima R.
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Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis
Journal of Inherited Metabolic Disease, 2018 B. Stelten +7 more
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