Phenylketonuria screening in the Republic of Macedonia.
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ABSTRACT:
SUBMITTER: Kocova M
PROVIDER: S-EPMC4975894 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Publications
Phenylketonuria screening in the Republic of Macedonia.
Kocova Mirjana M Anastasovska Violeta V
Orphanet journal of rare diseases 20160805 1
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. ...[more]
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