title: Phenylketonuria screening in the Republic of Macedonia.
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.
authors: Department of Endocrinology and Genetics, University Children's Hospital, Vodnjanska 17, Skopje, 1000, Republic of Macedonia. mirjanakocova@yahoo.com.
authors: Mirjana
authors: M
authors: Kocova
authors: Laboratory for neonatal screening, University Children's Hospital, Vodnjanska 17, Skopje, 1000, Republic of Macedonia.
authors: Violeta
authors: V
authors: Anastasovska
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000453:epidemiology*; D018843:Republic of North Macedonia / Q000453:epidemiology; D053719:Tandem Mass Spectrometry
keywords: Neonatal screening; Phenylketonuria; Tandem mass spectrometry