BTD, biotinidase, 686

N. diseases: 90; N. variants: 192
Disease: Glycogen Storage Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.020 AlteredExpression group BEFREE Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook. 20532819 2010
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.020 AlteredExpression group BEFREE An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. 17994282 2007