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Article

Vision of correction for classic homocystinuria.

The Journal of clinical investigation - 1 Jun 2016

Koeberl Dwight D

Abstract excerpt

Inherited metabolic disorders are often characterized by the lack of an essential enzyme and are currently treated by dietary restriction and other strategies to replace the substrates or products of the missing enzyme. Patients with homocystinuria lack the enzyme cystathionine β-synthase (CBS), and many of these individuals do not respond to current treatment protocols. In this issue of the JCI, Bublil and...

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Identifiers

PMID: 27183384
DOI: 10.1172/JCI88251
PMCID: PMC4887184

Genes

CBS

Provenance

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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