Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia

J Inherit Metab Dis. 2001 Dec;24(8):881-2. doi: 10.1023/a:1013956611607.

Authors

M Terzioglu¹, S Emre, H Ozen, I N Saltik, N Koçak, G Ciliv, A Yüce, F Gürakan

Affiliation

¹ Department of Medical Biology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

PMID: 11916325
DOI: 10.1023/a:1013956611607

No abstract available

MeSH terms

Alleles
Child, Preschool
Consanguinity
Gene Frequency
Genotype
Glucose-6-Phosphatase / genetics*
Glycogen Storage Disease Type I / diagnosis
Glycogen Storage Disease Type I / enzymology*
Glycogen Storage Disease Type I / genetics*
Homozygote
Humans
Infant
Liver / enzymology
Mutation*
Phenotype
Turkey

Substances

Glucose-6-Phosphatase