Phenylketonuria screening in the Republic of Macedonia

被引：0
|
作者：
Mirjana Kocova
Violeta Anastasovska
机构：
[1] University Children’s Hospital,Department of Endocrinology and Genetics
[2] University Children’s Hospital,Laboratory for neonatal screening
来源：
Orphanet Journal of Rare Diseases | / 11卷
关键词：
Phenylketonuria; Neonatal screening; Tandem mass spectrometry;
D O I：
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学科分类号：
摘要：
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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