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

Topics Community

Article

Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline.

Cytopathology : official journal of the British Society for Clinical Cytology - 1 Oct 2018

Nambirajan A, Sashidharan A, Garg A, Dash D, Bhatia R, Sharma M C, Mathur S R

Abstract excerpt

No abstract is available from the source.

Topics

Adult
Ankle
Cytodiagnosis
Female
Humans
Mutation
Nervous System Diseases
Siblings
Xanthomatosis, Cerebrotendinous
Young Adult

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 29737592
DOI: 10.1111/cyt.12573

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline.PMID 29737592Read ↗

Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.Semantic proximity Read ↗

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.Semantic proximity Read ↗

A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII.Semantic proximity Read ↗

Landing disease: a surprising cytological diagnosis on day 2 of life.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reportsSemantic proximity Read ↗

Ligneous conjunctivitis in a young patient with homozygous K19E plasminogen gene mutation: a diagnostic and therapeutic challenge.Semantic proximity Read ↗

[Cerebrotendinous xanthomatosis].Semantic proximity Read ↗

Peripheral blood smear in a patient with phosphoglycerate kinase 1 mutation.Semantic proximity Read ↗

Angiocentric immunoproliferative lesion presenting as bilateral salivary gland swellings: a case report with genotypic analysis.Semantic proximity Read ↗

Cytogenetic study in a specimen of Cebus apella with an atypical phenotype.Semantic proximity Read ↗

Xanthoma striatum palmare as an early sign of familial type III hyperlipoproteinemia with an apoprotein E genotype epsilon2/epsilon2.Semantic proximity Read ↗

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.Semantic proximity Read ↗

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