Results 111 to 120 of about 4,294 (176)

Cerebrotendinous xanthomatosis: A report of 3 cases

JAAD Case Reports, 2020
Katharine Saussy, MD, Neelesh Jain, BS, Andrea Murina, MD   +2 more
doaj   +1 more source

Cerebrotendinous Xanthomatosis: A Rare Etiology of the "Hot-Cross Bun" Sign. [PDF]

Ann Indian Acad Neurol, 2023
Rani D, Singla D, Garg D.
europepmc   +1 more source

Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis. [PDF]

Nutrients, 2023
Majait S, Meessen ECE, Vaz FM, Kemper EM, Nierop SV, Olde Damink SW, Schaap FG, Romijn JA, Nieuwdorp M, Verrips A, Knop FK, Soeters MR.   +11 more
europepmc   +1 more source

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond. [PDF]

Metab Brain Dis
Calisgan K, Zubarioglu T, İsat E, Babazade H, Akca-Yesil S, Akbulut S, Uygur E, Keskin V, Cirkin B, Durcan G, Dogangun B, Cansever MS, Aktuglu-Zeybek AC, Kiykim E.   +13 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis: a treatable hereditary neuro-metabolic disease

Clinics, 2010
Ana Claudia Rodrigues de Cerqueira, Antônio Egídio Nardi, Jose Marcelo Ferreira Bezerra   +2 more
doaj   +1 more source

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]

Int J Mol Sci
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc   +1 more source

Product development and quality of pharmacy compounded chenodeoxycholic acid capsules for Dutch cerebrotendinous xanthomatosis patients. [PDF]

Front Pharmacol, 2023
Bouwhuis N, Jacobs BAW, Kemper EM.
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings. [PDF]

Radiol Case Rep
Khan HG, Raj G, Yadav E, Gupta K, Kulshreshtha D, Ratna, Panda A, Kumar Y.   +7 more
europepmc   +1 more source

Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation. [PDF]

Cureus, 2023
Mahadevan N, Thiruvadi V, C P, A R, A M.
europepmc   +1 more source

Regulatory News: Chenodiol for the Treatment of Cerebrotendinous Xanthomatosis: FDA Approval Summary

Journal of Inherited Metabolic Disease
T. Bourne
semanticscholar   +1 more source