Article

Identification of mutations that causes glucose-6-phosphate transporter defect in Tunisian patients with glycogenosis type 1b

2023-01-03

Abstract excerpt

<h4>Background: </h4> Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by SLC37A4 leading to the accumulation of glycogen in various tissues. The high rate of consanguineous marriages in Tunisian population provides an ideal environment to facilitate the identification of homozygous pathogenic mutations. We aime...

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Literature Corpus work: 3a873f59-170e-5ad2-9f2e-9e67bdce5690
DOI: 10.21203/rs.3.rs-2409219/v1

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