Article

Immune dysregulation in Glycogen Storage Disease 1b - a CyTOF approach

2023-02-23

Abstract excerpt

<title>Abstract</title> <p>Glycogen Storage Disease type 1b (GSD1b) is a rare disease manifesting as hypoglycemia, recurrent infections and neutropenia, resulting from deleterious mutations in the <italic>SLC37A4</italic> gene encoding the glucose-6-phosphate transporter. The susceptibility to infections is thought to be attributed not only to the neutrophil defect, though extensive immunophenotyping characteriza...

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Literature Corpus work: 086d5890-7886-5c9c-8f88-f25087521498
DOI: 10.21203/rs.3.rs-2598829/v1

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