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Article

Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy.

Journal of inherited metabolic disease - 1 Nov 2021

Lee Hyung-Ok, Salami Christiana O, Sondhi Dolan, Kaminsky Stephen M, Crystal Ronald G, Kruger Warren D

Abstract excerpt

Cystathionine β-synthase (CBS) deficiency is a recessive inborn error of sulfur metabolism characterized by elevated blood levels of total homocysteine (tHcy). Patients diagnosed with CBS deficiency are currently treated by a combination of vitamin supplementation and restriction of foods containing the homocysteine precursor methionine, but the effectiveness of this therapy is limited due to poor compliance. A...

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Identifiers

PMID: 34528713
DOI: 10.1002/jimd.12437
PMCID: PMC8578459

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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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