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Article

Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.

Molecular genetics and metabolism - 1 Mar 2016

Sørensen Jannie Tanderup, Gaustadnes Mette, Stabler Sally P, Allen Robert H, Mudd S Harvey, Hvas Anne-Mette

Abstract excerpt

A discrepancy has been identified between numbers of expected and identified patients with homocystinuria due to cystathionine beta-synthase (CBS) deficiency. Patients homozygous for the frequent c.833T>C (p.I278T) are most often responsive to vitamin B6, and can present with a total-homocysteine (tHcy) <100 μM on a normal diet. In Denmark, patients with tHcy <100 μM are not routinely sequenced for CBS(2)...

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Source

Identifiers

PMID: 26750749
DOI: 10.1016/j.ymgme.2015.12.010

Genes

CBS
MTHFR

Variants

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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