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Article

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.

Journal of inherited metabolic disease - 1 Aug 2011

Sturiale Luisa, Barone Rita, Garozzo Domenico

Abstract excerpt

Contribution of mass spectrometry (MS) in the diagnosis and characterization of congenital disorders of glycosylation (CDG) has long been known. CDG type I diseases are characterized by the under-occupancy of protein N-glycosylation sites. Electrospray (ESI) MS and matrix assisted laser desorption ionization (MALDI) MS are effective for underglycosylation analyses of intact serum Transferrin (Tf) in CDG-I...

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PMID: 21384227
DOI: 10.1007/s10545-011-9306-8

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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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