NCL, nucleolin, 4691

N. diseases: 167; N. variants: 4
Disease: Blood spots ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4732730
Disease: Blood spots
Blood spots 		0.010 AlteredExpression disease BEFREE The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy. 29778029 2018