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Published in: Orphanet Journal of Rare Diseases 1/2016

Open Access 01-12-2016 | Letter to the Editor

Phenylketonuria screening in the Republic of Macedonia

Authors: Mirjana Kocova, Violeta Anastasovska

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

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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.
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Metadata
Title
Phenylketonuria screening in the Republic of Macedonia
Authors
Mirjana Kocova
Violeta Anastasovska
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-016-0483-2

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