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Article

Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.

Clinica chimica acta; international journal of clinical chemistry - 20 Apr 2014

Helander Anders, Jaeken Jaak, Matthijs Gert, Eggertsen Gösta

Abstract excerpt

CASE REPORT: In a routine company health check-up, a 32-year-old woman presented a highly elevated serum level of carbohydrate-deficient transferrin (CDT), a biomarker for excessive alcohol consumption. The test result (~17% disialotransferrin, reference interval <2.0%; ~3% asialotransferrin, reference 0%) was confirmed by analysis of a second sample, while another alcohol biomarker, phosphatidylethanol (PEth) in...

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Source

Identifiers

PMID: 24508628
DOI: 10.1016/j.cca.2014.01.018

Genes

MPI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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