glycogen storage disease type III

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glycogen storage disease type III

A glycogen storage disease caused by a deficiency of two debranching enzymes in liver and muscle tissues.

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Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC.

(11.) Lam CW, Lee AT Lam YY Wong TW, Mak TW, Fung WC, Chan KC, Ho CS, Tong SF DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

Mutational analysis of ten Turkish patients with glycogen storage disease type III: identification of four novel mutations