Browsing Tıp Fakültesi by Subject "Fenilalanin hidroksilaz"
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Fenilketonüri Hastalarında Genotip-Fenotip İlişkisi
(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 ...