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

Cerebrotendinous xanthomatosis.

Current opinion in lipidology - 1 Apr 1994

Leitersdorf E, Meiner V

Abstract excerpt

Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease. Molecular diagnosis provides means for the identification of heterozygotes and pre-symptomatic detection of affected individuals.

Read the complete abstract on PubMed

Topics

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

Share to Cloning, Molecular
Share to Cytochrome P-450 Enzyme System
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Morocco

Share to Mutation

Share to Steroid Hydroxylases

Source

Identifiers

PMID: 8044416
DOI: 10.1097/00041433-199404000-00010

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cerebrotendinous xanthomatosis.PMID 8044416Read ↗

Pathophysiology of cerebrotendinous xanthomatosis.Semantic proximity Read ↗

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

Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease.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 genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.Semantic proximity Read ↗

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

Genetics of Cerebrotendinous Xanthomatosis.Semantic proximity Read ↗

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

Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.Semantic proximity Read ↗

Chinese identical twins with cerebrotendinous xanthomatosis: A family report and literature review.Semantic proximity Read ↗

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

A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis.Semantic proximity Read ↗

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