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

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

J Inherit Metab Dis ; 29(1): 224-5, 2006 Feb.

Article in English | MEDLINE | ID: mdl-16601899

ABSTRACT

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.

Subject(s)

Glycogen Storage Disease Type I/genetics , Mutation , Neutropenia/diagnosis , Neutropenia/genetics , Neutrophils/pathology , Adolescent , Antiporters/genetics , Homozygote , Humans , Liver/enzymology , Male , Monosaccharide Transport Proteins/genetics , Neutrophils/metabolism , Phenotype

ABSTRACT

Subject(s)

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