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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

Authors

Barbka Repič Lampret

University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia

Žiga Iztok Remec

University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia

Ana Drole Torkar

University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Mojca Žerjav Tanšek

University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Andraz Šmon

University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia

Vanesa Koračin

University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Vanja Čuk

University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia

Daša Perko

University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia

Blanka Ulaga

University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia

Ana Marija Jelovšek

University Medical Centre Ljubljana, Ljubljana, Slovenia

Maruša Debeljak

University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Jernej Kovač

University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia

Tadej Battelino

University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Urh Grošelj

urh.groselj@kclj.si

University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia
DOI: https://doi.org/10.2478/sjph-2020-0032 | Journal eISSN: 1854-2476 | Journal ISSN: 0351-0026
Journal RSS Feed
Language: English
Page range: 256 - 263
Submitted on: Apr 17, 2020
|
Accepted on: Sep 17, 2020
|
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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