
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Keywords: AAV; adeno-associated virus; AED; anti-epileptic drug(s); DHA; docosahexaenoic acid; DHCA; dihydroxycholestanoic acid; ERG; electroretinogram; G-tube; gastrostomy tube; IRD; infantile Refsum disease; LC-MS/MS; liquid chromatography/tandem mass spectrometr