Results 131 to 140 of about 5,605 (209)

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

Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving <i>CYP27A1(C.526del)</i>. [PDF]

JCEM Case Rep
Roy A, Roy SK, Das S.
europepmc   +1 more source

Spinal phenotype of cerebrotendinousxanthomatosis: A pitfall in the diagnosis ofmultiple sclerosis [PDF]

, 2018
Bartholdi, D., Hess, K., Jung, H., Sistermans, E., Verrips, A., Wevers, R., Zumsteg, D.   +6 more
core  

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 report of 3 cases

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

Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX. [PDF]

Orphanet J Rare Dis
Del Monte MA, Hanson J, Bonnen PE.
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

A Novel Compound Heterozygous <i>CYP27A1</i> Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family. [PDF]

Mol Syndromol
Cesur Baltacı HN, Sağlam Ada B, Yürür Kutlay N, Tükün A, Teber ST, Coşkun T.   +5 more
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

The phenomenology and natural history of idiopathic lower cranial dystonia [PDF]

, 2014

core   +1 more source