
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies
Keywords: Congenital manganism; SLC39A14; Manganese toxicity; BID; twice daily; CaNa2EDTA; edetate calcium disodium; CBC; complete blood count; cDNA; complementary DNA; dCT; delta cycle threshold; ddCT; double delta cycle threshold; DMSA; dimercaptosuccinic acid; M