Phenylketonuria screening in the Republic of Macedonia

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 me...

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Autores principales: Kocova, Mirjana, Anastasovska, Violeta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975894/
https://www.ncbi.nlm.nih.gov/pubmed/27496147
http://dx.doi.org/10.1186/s13023-016-0483-2
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author Kocova, Mirjana
Anastasovska, Violeta
author_facet Kocova, Mirjana
Anastasovska, Violeta
author_sort Kocova, Mirjana
collection PubMed
description 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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spelling pubmed-49758942016-08-07 Phenylketonuria screening in the Republic of Macedonia Kocova, Mirjana Anastasovska, Violeta Orphanet J Rare Dis Letter to the Editor 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. BioMed Central 2016-08-05 /pmc/articles/PMC4975894/ /pubmed/27496147 http://dx.doi.org/10.1186/s13023-016-0483-2 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Letter to the Editor
Kocova, Mirjana
Anastasovska, Violeta
Phenylketonuria screening in the Republic of Macedonia
title Phenylketonuria screening in the Republic of Macedonia
title_full Phenylketonuria screening in the Republic of Macedonia
title_fullStr Phenylketonuria screening in the Republic of Macedonia
title_full_unstemmed Phenylketonuria screening in the Republic of Macedonia
title_short Phenylketonuria screening in the Republic of Macedonia
title_sort phenylketonuria screening in the republic of macedonia
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975894/
https://www.ncbi.nlm.nih.gov/pubmed/27496147
http://dx.doi.org/10.1186/s13023-016-0483-2
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