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/20.500.12188/11113Identifier: 10.1186/s13023-016-0483-2
Identifier: http://link.springer.com/content/pdf/10.1186/s13023-016-0483-2.pdfIdentifier: 11
Identifier: 1