Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.

Autor: Lampret BR; University Medical Centre Ljubljana, University Children's Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia., Remec ŽI; University Medical Centre Ljubljana, University Children's Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia., Torkar AD; University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoričeva 20, 1000 Ljubljana, Slovenia.; University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia., Tanšek MŽ; University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoričeva 20, 1000 Ljubljana, Slovenia.; University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia., Šmon A; University Medical Centre Ljubljana, University Children's Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia., Koračin V; University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia., Čuk V; University Medical Centre Ljubljana, University Children's Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia., Perko D; University Medical Centre Ljubljana, University Children's Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia., Ulaga B; University Medical Centre Ljubljana, University Children's Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia., Jelovšek AM; University Medical Centre Ljubljana, Zaloška cesta 2, 1000 Ljubljana, Slovenia., Debeljak M; University Medical Centre Ljubljana, University Children's Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia.; University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia., Kovač J; University Medical Centre Ljubljana, University Children's Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia., Battelino T; University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoričeva 20, 1000 Ljubljana, Slovenia.; University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia., Grošelj U; University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoričeva 20, 1000 Ljubljana, Slovenia.; University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia.

Publikováno v: Zdravstveno varstvo [Zdr Varst] 2020 Oct 18; Vol. 59 (4), pp. 256-263. Date of Electronic Publication: 2020 Oct 18 (Print Publication: 2020).