Results 1 to 10 of about 2,313 (193)

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis. [PDF]

J Inherit Metab Dis
ABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Bouwhuis N, Majait S, Polak Y, de Jong A, Jacobs BAW, Vaz FM, Leen WG, Kemper EM, Swart EL, Hollak CEM.   +9 more
europepmc   +2 more sources

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   +2 more sources

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

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

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

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review. [PDF]

Brain Sci, 2023
Ribeiro RM, Vasconcelos SC, Lima PLGSB, Coelho EF, Oliveira AMN, Gomes EABM, Mota LA, Radtke LS, Carvalho MDS, Araújo DABS, Pinheiro MSN, Gama VCV, Júnior RMM, Braga Neto P, Nóbrega PR.   +14 more
europepmc   +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

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis. [PDF]

Front Neurol
Guoliang Y, Zhaoxia W, Lin Z, Xuan C, Xiaodong Z, Xiaolian X, Yangli S, Tianli Z, Yanping Z, Jiangping W, Qing L.   +10 more
europepmc   +1 more source