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Article

Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib.

International immunopharmacology - 1 Mar 2017

Letkemann Rudolf, Wittkowski Helmut, Antonopoulos Aristotelis, Podskabi Teodor, Haslam Stuart M, Föll Dirk, Dell Anne, Marquardt Thorsten

Abstract excerpt

Glycogen storage disease type Ib (GSD-Ib) is characterized by impaired glucose homeostasis, neutropenia and neutrophil dysfunction. Mass spectrometric glycomic profiling of GSD-Ib neutrophils showed severely truncated N-glycans, lacking galactose. Experiments indicated the hypoglycosylation of the electron transporting subunit of NADPH oxidase, which is crucial for the defense against bacterial infections. In...

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Identifiers

PMID: 28126686
DOI: 10.1016/j.intimp.2017.01.020

Genes

PGM1

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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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