
Compound Heterozygous Mutations Affect Protein Folding and Function in Patients With Congenital Sucrase-Isomaltase Deficiency
Keywords: CSID, congenital sucrase-isomaltase deficiency; endo H, endo-β-N-acetylglucosaminidase H; ER, endoplasmic reticulum; IM, isomaltase; mAb, monoclonal antibody; SDS-PAGE, sodium dodecyl sulfate–polyacrylamide gel electrophoresis; SI, sucrase-isomaltase; SUC