Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa
Keywords: GSD; glycogen storage disease; PhK; phosphorylase kinase; XLG; X-linked liver glycogenosis; ALT; aminotransferase; AST; aspartate aminotransferase; CR; serum creatinine; TC; total cholesterol; TG; total triglyceride; CK; creatine kinase; NGS; next-generat