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...

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Publicado en:Journal of Pediatrics Review Vol. 14; no. 2; pp. 111 - 145
Autores principales: Alian, Fatemeh, Bagheri, Nastaran, Fayyazpour, Parisa, Torki, Zahra, Hashemipour, Mahin, Salehi, Mansoor, Abdolahpour, Saeideh, Ranjbarnejad, Tayebeh, Hovsepian, Silva, Rostampour, Noushin
Formato: research systematic review tables/charts Journal Article
Publicado: Mazandaran University of Medical Sciences Apr2026
Acceso en línea:Ver este registro en EBSCOhost