
Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies
Keywords: GSD; glycogen storage disease; Pase; phosphorylase; Phk; phosphorylase b kinase; LF; liver failure; ALT; alanine aminotransferase; AST; aspartate aminotransferase; GGT; gamma-glutamyl transferase; ULN; upper limit of normal range; SNP; single nucleotide p