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Article

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.

Journal of inherited metabolic disease - 1 Feb 2006

Martens D H J, Kuijpers T W, Maianski N A, Rake J P, Smit G P A, Visser G

Abstract excerpt

We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.

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PMID: 16601899
DOI: 10.1007/s10545-006-0146-x

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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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