Disease: Ethylmalonic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		0.010 Biomarker disease BEFREE To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA). 16183799 2006