Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Autor: Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Emma Lundman, Mona C. Berge, Anette K. Trømborg, Linda K. Sørgjerd, Mari Ytre-Arne, Silje Hogner, Ruth Halsne, Hege Junita Gaup, Liv T. Osnes, Grete A. B. Kro, Hanne S. Sorte, Lars Mørkrid, Alexander D. Rowe, Trine Tangeraas, Jens V. Jørgensen, Charlotte Alme, Trude E. H. Bjørndalen, Arild E. Rønnestad, Astri M. Lang, Terje Rootwelt, Jochen Buechner, Torstein Øverland, Tore G. Abrahamsen, Rolf D. Pettersen, Asbjørg Stray-Pedersen

Publikováno v: Frontiers in Immunology, Vol 11 (2020)

Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) wit

Externí odkaz: https://doaj.org/article/634d7c285f864c7781322eb1360b861b

Performance of expanded newborn screening in norway supported by post-analytical bioinformatics tools and rapid second-tier DNA analyses

Autor: Dionne Navarrete, Carlos Sagredo, Terje Rootwelt, Linda Karlsen Sørgjerd, Asbjørg Stray-Pedersen, Cathrin Lytomt Salvador, Janne Strand, Anette Kjoshagen Trømborg, Ingjerd Sæves, Gunnþórunn Gunnarsdottir, Hege Junita Gaup, Rolf D. Pettersen, Mona C. Berge, Mette R. Kløvstad Olavsen, Piero Rinaldo, Berit Woldseth, Trine Tangeraas, Rolf Zetterström, Anders Ziegler, Jens V. Jørgensen, Eirik Vangsøy Hansen, Silje Hogner, Yngve Thomas Bliksrud, Mari Ytre-Arne, Erle Kristensen, Siv M. Løvoll, R. Lilje, E. Lundman, Alexander D. Rowe, Claus Klingenberg, Jin Hui Zhang, Øyvind E. Olsen, Sacha Ferdinandusse

Publikováno v: International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 6, Iss 51, p 51 (2020)
International Journal of Neonatal Screening, 6(3):51. MDPI Multidisciplinary Digital Publishing Institute
Volume 6
Issue 3

In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 Marc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::572514e14b18d1cd463babf6d8421538
https://doi.org/10.3390/ijns6030051

New carbocyclic nucleosides: synthesis of carbocyclic pseudoisocytidine and its analogs

Autor: Bjørn Dalhus, Lukáš Maier, Mari Ytre-Arne, Martin Trbušek, Magnar Bjørås, Marek Nečas, Ondřej Hylse, Kamil Paruch

Publikováno v: Tetrahedron Letters

Cyclopentane-containing nucleoside analogs with a CC connection between the (heterocyclic) base and the carbocyclic scaffold are quite rare. Herein, we report the synthesis of previously unknown racemic carbocyclic pseudoisocytidine and its analogs,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012fb6243dc93b667864a14d734b0b27
https://doi.org/10.1016/j.tetlet.2014.05.030

Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type

Autor: Helge Rootwelt, Mari Ytre-Arne, Paul Hoff Backe, Lars Mørkrid, Brian Fowler, Åsmund K. Røhr, Magnar Bjørås, Else Brodtkorb

Publikováno v: JIMD Reports ISBN: 9783642373275

Combined methylmalonic aciduria and homocystinuria, cblC type (MMACHC), is the most common inborn error of cellular vitamin B12 metabolism and is caused by mutations in the MMACHC gene. This metabolic disease results in impaired intracellular synthes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d457df5621a7413fa9297d4a10134ee2
https://europepmc.org/articles/PMC3755550/