Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing
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
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
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:
Related subjects:
© 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.