Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rare genetic cerebrotendinous xanthomatosis (CTX) cases without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.

Journal of clinical lipidology - 1 Jan 2024

Alves Renato Jorge, Nunes Valéria Sutti, Junior Ney Carter do Carmo Borges, Nakandakare Edna Regina, Quintão Eder Carlos Rocha

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disease attributed to the mutation of the gene CYP27A1, resulting in sterol 27-hydroxylase deficiency characterized by deposition of cholestanol and cholesterol in several tissues, like the central nervous system and tendons. Furthermore, cataracts, gallstones, diarrhea and premature atherosclerosis have been reported. Nonetheless, clinical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cholestanetriol 26-Monooxygenase
Share to Cholesterol

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Tendons

Share to Xanthomatosis

Share to Xanthomatosis, Cerebrotendinous

Source

Identifiers

PMID: 38906752
DOI: 10.1016/j.jacl.2024.04.128

Genes

CYP27A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare genetic cerebrotendinous xanthomatosis (CTX) cases without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.PMID 38906752Read ↗

Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas.Semantic proximity Read ↗

A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis without neurological involvementSemantic proximity Read ↗

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementSemantic proximity Read ↗

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.Semantic proximity Read ↗

Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.Semantic proximity Read ↗

Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.Semantic proximity Read ↗

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.Semantic proximity Read ↗

Pathophysiology of cerebrotendinous xanthomatosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.