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

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: Chkioua, Latifa, Amri, Yessine, Sahli, Chayma, Rhouma, Ferdawes Ben, Chehida, Amel Ben, Tebib, Neji, Messaoud, Taieb, Abdennebi, Hassen Ben, Laradi, Sandrine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10142411/
https://www.ncbi.nlm.nih.gov/pubmed/37118808
http://dx.doi.org/10.1186/s13098-023-01065-2

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