GPD1, glycerol-3-phosphate dehydrogenase 1, 2819

N. diseases: 38; N. variants: 3
Disease: Infantile Refsum Disease (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.010 GeneticVariation disease BEFREE We confirmed the diagnosis of a GPD in eight ZS and four IRD patients (GPD1 to GPD12) biochemically by measuring very long chain fatty acids, plasmalogen biosynthesis, and catalase solubility in skin fibroblasts. 8730284 1996