.

ISSN 2063-5346
For urgent queries please contact : +918130348310

MUTATION ANALYSIS FOR SOME TYPES OF GLYCOGEN STORAGE DISEASES FOR PREVENTIVE STRATEGY

Main Article Content

Mohammad Mohammad Saleh Al-Haggar1 , Samir Mohamed Abou El Hassan1 , Sherine Magdy Abdelmonem Elzeiny1 , Eman Hamdy AbdElalim1
» doi: 10.48047/ecb/2023.12.8.567

Abstract

Background: All GSDs are due to a failure to use or store glycogen. Many of the enzymes and transporters for these processes are key to the etiology of GSDs. An increasing number of GSDs are being identified, but some are very rare. Aim and objectives: to diagnose molecularly some types of GSDs screened clinically by the basic symptoms and signs and confirmed by metabolic screen

Article Details