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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Detalles Bibliográficos
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
Descripción
Sumario: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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