Molecular diagnosis of panel-based next-generation sequencing approach and clinical symptoms in patients with Glycogen Storage Disease. Homo sapiens

This is a retrospective report of a case series pediatric patients with multiple GSD types for different gene variants; concurrently, genotype-phenotype correlation was not relatively well-established in our genetic diseases as the limited number of subjects. One of the reasons that most patients with GSDs misdiagnosed potentially is unvariable to obtain accurate genetic testing. This is one of the largest panel based next-generation sequencing report for pediatric patients with GSDs. Our results suggest a decrease in aminotransferases with age. However, patients in our research is still relatively young, and there has been missing follow-up data for clinical and biochemical information partially. Significantly, with the easier availability of panel based next-generation sequencing, some patients avoided the invasive liver puncture to make an appropriate diagnosis and collected all gene variants that are essential for accurate prognosis and treatment.