Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients...
Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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 identificatio...
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Full title
Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b
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TN_cdi_doaj_primary_oai_doaj_org_article_5c3a8d027fbc4cf9ba800c73837901e7
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5c3a8d027fbc4cf9ba800c73837901e7
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ISSN
1758-5996
E-ISSN
1758-5996
DOI
10.1186/s13098-023-01065-2
