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Article

Sensitivity of transferrin isoform analysis for PMM2-CDG.

Molecular genetics and metabolism - 1 Jan 2000

Hall Patrica L, Liedke Kris, Turgeon Coleman, White Amy, Pino Gesele Bentz, Peck Dawn, Studinski April, Gavrilov Dimitar, Tortorelli Silvia, Oglesbee Devin, Matern Dietrich, Raymond Kimiyo, Schultz Matthew J

Abstract excerpt

Transferrin isoform analysis is an established laboratory test for congenital disorders of glycosylation (CDG). Despite its long history of clinical use, little has been published about its empirical sensitivity for specific conditions. We conducted a retrospective analysis of ten years of testing data and report our experience with transferrin testing for type I profiles and its sensitivity for the most common...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39216211
DOI: 10.1016/j.ymgme.2024.108564

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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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