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Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing Cover

Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing

Slovenian Journal of Public Health
Volume 59 (2020): Issue 4 (December 2020)
By: Barbka Repič Lampret,  Žiga Iztok Remec,  Ana Drole Torkar,  Mojca Žerjav Tanšek,  Andraz Šmon,  Vanesa Koračin,  Vanja Čuk,  Daša Perko,  Blanka Ulaga,  Ana Marija Jelovšek,  Maruša Debeljak,  Jernej Kovač,  Tadej Battelino and  Urh Grošelj  
Open Access
|Oct 2020
DOI: https://doi.org/10.2478/sjph-2020-0032 | Journal eISSN: 1854-2476 | Journal ISSN: 0351-0026
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Language: English
Page range: 256 - 263
Submitted on: Apr 17, 2020
|
Accepted on: Sep 17, 2020
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Published on: Oct 18, 2020
Published by: National Institute of Public Health, Slovenia
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
newborn screening,
NBS,
tandem mass spectrometry,
MS/ MS,
next-generation sequencing,
NGS,
inborn errors of metabolism,
IEM
Related subjects:
Medicine,
Clinical medicine,
Hygiene and environmental medicine

© 2020 Barbka Repič Lampret, Žiga Iztok Remec, Ana Drole Torkar, Mojca Žerjav Tanšek, Andraz Šmon, Vanesa Koračin, Vanja Čuk, Daša Perko, Blanka Ulaga, Ana Marija Jelovšek, Maruša Debeljak, Jernej Kovač, Tadej Battelino, Urh Grošelj, published by National Institute of Public Health, Slovenia
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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