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Slovenian Journal of Public Health
Édition 59 (2020): Edition 4 (December 2020)
Accès libre
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
et
Urh Grošelj
Urh Grošelj
| 18 oct. 2020
Slovenian Journal of Public Health
Édition 59 (2020): Edition 4 (December 2020)
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Article Category:
Research Article
Publié en ligne:
18 oct. 2020
Pages:
256 - 263
Reçu:
17 avr. 2020
Accepté:
17 sept. 2020
DOI:
https://doi.org/10.2478/sjph-2020-0032
Mots clés
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.
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
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