Article

Prospective Cholestanol Screening of Cerebrotendinous Xanthomatosis Among Patients With Juvenile-onset Unexplained Bilateral Cataracts

2022-07-06

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to <italic>CYP27A1</italic> biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most common findings in the disease, frequently occurring before the onset of neurological manifestations. While early treatment...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1686e8c8-46d5-5280-982e-d3c8e7db1fb2
DOI: 10.21203/rs.3.rs-1753299/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Prospective Cholestanol Screening of Cerebrotendinous Xanthomatosis Among Patients With Juvenile-onset Unexplained Bilateral CataractsDOI 10.21203/rs.3.rs-1753299/v1Read

Targeted CYP27A1 gene analysis for early identification of cerebrotendinous xanthomatosis in juvenile cataract patients: report of a novel variant.Semantic proximity Read

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

Update on cerebrotendinous xanthomatosis.Semantic proximity Read

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.Semantic proximity Read

Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.Semantic proximity Read

Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease.Semantic proximity Read

Genetics of Cerebrotendinous Xanthomatosis.Semantic proximity Read

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.Semantic 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

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

[Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment].Semantic proximity Read

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.Semantic proximity Read