Home | Repositories | Statistics | About





Year: 2016


Type: Article



Title: Phenylketonuria screening in the Republic of Macedonia


Author: Mirjana Kocova
Author: Violeta Anastasovska



Abstract: 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.


Publisher: BMC Part of Springer Nature


Relation: Orphanet Journal of Rare Diseases



Identifier: oai:repository.ukim.mk:20.500.12188/11113
Identifier: http://hdl.handle.net/20.500.12188/11113
Identifier: 10.1186/s13023-016-0483-2
Identifier: http://link.springer.com/content/pdf/10.1186/s13023-016-0483-2.pdf
Identifier: 11
Identifier: 1



TitleDateViews
Phenylketonuria screening in the Republic of Macedonia201618