
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia
Keywords: 17β-HSD, 17 β-hydroxysteroid dehydrogenase protein; 17β-HSD 4, 17 β-hydroxysteroid dehydrogenase type 4 protein; BAEP, brainstem auditory evoked potential; C16:0, palmitic acid; C16DMA, hexadecanal dimethylacetal; C18:0, stearic acid; C18DMA, octadecanal