Glycogen storage disease type Ib without neutropenia.
case_report · Level V
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- Record sourced from PubMed, PMID 10931421.
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Abstract
We report 2 patients with atypical glycogen storage disease type Ib without neutropenia or infectious complications. Neither patient was deficient in hepatic glucose-6-phosphatase activities in microsome-disrupted homogenates; both had mutations in the glucose-6-phosphate transporter gene, suggesting an allelic variant of glycogen storage disease type Ib.
Medical subject headings
- Adult
- Child
- Glucose-6-Phosphatase
- Glucose-6-Phosphatase/genetics
- Glucose-6-Phosphatase/metabolism
- Glucose-6-Phosphate
- Glucose-6-Phosphate/genetics
- Glycogen Storage Disease Type I
- Glycogen Storage Disease Type I/diagnosis
- Glycogen Storage Disease Type I/enzymology
- Glycogen Storage Disease Type I/genetics
- Humans
- Mutation
- Neutropenia