Article
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.
American journal of medical genetics. Part A - 1 May 2020
Perveen Shama, Gupta Neerja, Kumar Manoj, Kaur Punit, Chowdhury Madhumita R, Kabra Madhulika
Abstract excerpt
Glycogen storage disease type III (GSD III) is a rare autosomal recessive inborn error of glycogen degradation pathway due to deficiency or reduced activity of glycogen debranching enzyme (GDE) that results in accumulation of abnormal glycogen in the liver, muscle, and heart. The cardinal hallmarks are hepatomegaly, fasting hypoglycemia, seizures, growth retardation, progressive skeletal myopathy, and...
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