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Article

A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.

Journal of the neurological sciences - 15 Jan 2014

Sarov Mariana, Not Adeline, de Baulny Hélène Ogier, Masnou Pascal, Vahedi Katayoun, Bousser Marie-Germaine, Denier Christian

Abstract excerpt

BACKGROUND: Homocystinuria caused by cystathionine beta synthase (CBS) deficiency is most often diagnosed in childhood and has a variable expressivity. The most frequent abnormalities include intellectual disability, ectopia lentis, myopia, skeletal abnormalities or thromboembolism. OBJECTIVE: To report a case of homocystinuria unraveled by cerebral venous thrombosis (CVT). OBSERVATION: A 17 year old female was...

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Source

Identifiers

PMID: 24169224
DOI: 10.1016/j.jns.2013.10.009

Genes

CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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