Frequency of G6PC1 and SLC37A4 Genetic Variants in Asian Patients With Glycogen Storage Disease Type I: A Systematic Review.
Background: Glycogen storage disease type I (GSD I), or Von Gierke disease, is a rare autosomal recessive disorder caused by mutations in the G6PC1 (GSD Ia) or SLC37A4 (GSD Ib) genes. Early genetic diagnosis is essential to prevent complications. Objectives: This study aimed to systematically review...
| Publicado en: | Journal of Pediatrics Review Vol. 14; no. 2; pp. 111 - 145 |
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| Autores principales: | , , , , , , , , , |
| Formato: | research systematic review tables/charts Journal Article |
| Publicado: |
Mazandaran University of Medical Sciences
Apr2026
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| Acceso en línea: | Ver este registro en EBSCOhost |