Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countries. We present here the results of the selective newborn screening for inborn errors of metabolism, including PKU, performed by tandem mass spectrometry which has been introduced in Macedonia since 2011.
CITATION STYLE
Kocova, M., & Anastasovska, V. (2016). Phenylketonuria screening in the Republic of Macedonia. Orphanet Journal of Rare Diseases, 11(1). https://doi.org/10.1186/s13023-016-0483-2
Mendeley helps you to discover research relevant for your work.