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Comment
. 2016 Aug 5;11(1):112.
doi: 10.1186/s13023-016-0483-2.

Phenylketonuria screening in the Republic of Macedonia

Mirjana Kocova  1 , Violeta Anastasovska  2
Affiliations
Comment

Phenylketonuria screening in the Republic of Macedonia

Mirjana Kocova et al. Orphanet J Rare Dis. .

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.

Keywords: Neonatal screening; Phenylketonuria; Tandem mass spectrometry.

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Comment on

  • Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.
    Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksic H, Marginean O, Margineanu O, Miljanovic O, Moldovanu F, Muresan M, Nanu M, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Zerjav Tansek M, et al. Orphanet J Rare Dis. 2015 May 30;10:68. doi: 10.1186/s13023-015-0283-0. Orphanet J Rare Dis. 2015. PMID: 26025111 Free PMC article.

References

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    1. Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksic H, Marginean O, Margineanu O, Miljanovic O, Moldovanu F, Muresan M, Nanu M, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Phenylketonuria screening and management in southeastern Europe—survey results from 11 countries. Orphanet J Rare Dis. 2015;10:68–74. doi: 10.1186/s13023-015-0283-0. - DOI - PMC - PubMed
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