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Updated: Aug 18, 2026

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
Published on: December 23, 2014
Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases
P Trioche1, F Petit, J Francoual
1Service de Pédiatrie and UPRES EA 2705, Hôpital Antoine Béclère (AP-HP), Clamart cedex, France.
Abstract:
Eleven patients with glycogen storage disease type Ib (GSD Ib) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 21/22 mutant alleles comprising 12 different mutations in the glucose-6-phosphate translocase gene (G6PT). Among these, one is a novel mutation of G6PT: 855T>C (L229P).
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