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Slovenian Journal of Public Health
Volume 59 (2020): Issue 4 (December 2020)
Open Access
Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing
Barbka Repič Lampret
Barbka Repič Lampret
,
Žiga Iztok Remec
Žiga Iztok Remec
,
Ana Drole Torkar
Ana Drole Torkar
,
Mojca Žerjav Tanšek
Mojca Žerjav Tanšek
,
Andraz Šmon
Andraz Šmon
,
Vanesa Koračin
Vanesa Koračin
,
Vanja Čuk
Vanja Čuk
,
Daša Perko
Daša Perko
,
Blanka Ulaga
Blanka Ulaga
,
Ana Marija Jelovšek
Ana Marija Jelovšek
,
Maruša Debeljak
Maruša Debeljak
,
Jernej Kovač
Jernej Kovač
,
Tadej Battelino
Tadej Battelino
and
Urh Grošelj
Urh Grošelj
| Oct 18, 2020
Slovenian Journal of Public Health
Volume 59 (2020): Issue 4 (December 2020)
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Article Category:
Research Article
Published Online:
Oct 18, 2020
Page range:
256 - 263
Received:
Apr 17, 2020
Accepted:
Sep 17, 2020
DOI:
https://doi.org/10.2478/sjph-2020-0032
Keywords
newborn screening
,
NBS
,
tandem mass spectrometry
,
MS/ MS
,
next-generation sequencing
,
NGS
,
inborn errors of metabolism
,
IEM
© 2020 National Institute of Public Health, Slovenia
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.