SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Glycogen Storage Disease Type II, Infantile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.020 AlteredExpression disease BEFREE Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. 11286229 2001
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.020 AlteredExpression disease BEFREE We describe two unrelated Dutch patients with typical symptoms of infantile glycogen storage disease type II (GSD II) and virtual absence of acid alpha-glucosidase activity in leukocytes and cultured skin fibroblasts. 8884087 1996