• Fenilketonüri Hastalarında Genotip-Fenotip İlişkisi 

      Akal, Can (Tıp Fakültesi, 2019)
      Phenylketonuria (PKU) is an autosomal recessive metabolic disease characterized primarily by motor and mental retardation and microcephaly. In this study, demographic information, diagnostic blood PA levels, median blood ...