Op deze pagina kunt u een gedetailleerde analyse krijgen van een woord of zin, geproduceerd met behulp van de beste kunstmatige intelligentietechnologie tot nu toe:
Infantile Refsum disease (IRD) is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the PEX family of genes. IRD is associated with deficient phytanic acid catabolism, as is adult Refsum disease, but they are different disorders that should not be confused.