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Individuals with R116Q mutations in the PNPO gene have a milder phenotype, with some experiencing no seizures or late-onset symptoms and only mild to moderate mental retardation [36]

PMID 19031375

The protocol of antidote treatment consisted of NAC administration at 150, 50 and 100 mg/kg body weight at +1h, +2-5h and +6-22h after hospitalization, respectively

507 Loss-of-function mutations in CBL are also linked to autoreactive inflammatory disorders, further implicating the UPS in MS pathogenesis
