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http://hdl.handle.net/20.500.12188/11113
Наслов: | Phenylketonuria screening in the Republic of Macedonia | Authors: | Mirjana Kocova Violeta Anastasovska |
Issue Date: | 2016 | Publisher: | BMC Part of Springer Nature | Journal: | Orphanet Journal of Rare Diseases | 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. | URI: | http://hdl.handle.net/20.500.12188/11113 | DOI: | 10.1186/s13023-016-0483-2 |
Appears in Collections: | Faculty of Medicine: Journal Articles |
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