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Documents Chapter 11 Newborn Screening. Introduction Newborns can be screened for an increasing variety of...

Slide 1 Chapter 11 Newborn Screening Slide 2 Introduction Newborns can be screened for an increasing variety of conditions on the principle that early detection can lead…

Documents Amino acid disorders. Phenylketonuria (PKU) Enzyme defect: phenylalanine hydroxylase (12th...

Slide 1 Amino acid disorders Slide 2 Slide 3 Phenylketonuria (PKU) Enzyme defect: phenylalanine hydroxylase (12th chromosome): more than 400 mutations Incidence: Average…

Documents Amino acid disorders

Amino acid disorders 4-OH-fenilpirüvik asit Homogentisik asit Malleoloasitik asit Fümarilasetoasetik asit Süksinil- aseton Fümarik asit + asetoasetik asit Fenilalanin…