Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jens V. Jørgensen"'
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
Autor:
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU
Externí odkaz:
https://doaj.org/article/fa8d0419b00e4e5aaeec6593e5894762
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
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
Autor:
Radha Ramachandran, Katrin Õunap, Maja Stojiljkovic, Neslihan Önenli Mungan, Callum Wilson, Clara D.M. van Karnebeek, Vincenzo Leuzzi, Nenad Blau, Gwendolyn Gramer, Kimberly K. Powell, William B. Hanley, Carla E. M. Hollak, Miroslaw Bik-Multanowski, F. K. Trefz, Maja Djordjevic, K. Ahring, Jozef Hertecant, Fatma Derya Bulut, François Feillet, Annemiek M. J. van Wegberg, Danique van Vliet, Natalia Usurelu, Bozena Didycz, Kari Casas, Frank Rutsch, Jens V. Jørgensen, Maria Gizewska, Antonio Federico, Aria Setoodeh, Kathryn Moseley, Francesca Nardecchia, Francjan J. van Spronsen, Yuval Landau, Per Mathisen, Daniela Karall
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Orphanet Journal of Rare Diseases, 13, 149
Orphanet Journal of Rare Diseases, 13, 1, pp. 149
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 13(1):149. BioMed Central
Orphanet Journal of Rare Diseases, 13, 149
Orphanet Journal of Rare Diseases, 13, 1, pp. 149
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 13(1):149. BioMed Central
Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26eeba37bcb008737d1ce3ca537ceded
http://hdl.handle.net/11573/1141993
http://hdl.handle.net/11573/1141993
Publikováno v:
JIMD Reports ISBN: 9783642541483
PKU patients on a strict low protein diet get most of their folic acid intake from protein substitute. Several protein substitutes contain high amounts of this vitamin. Concern has been raised about the safety of high levels of folic acid, especially
Autor:
Georg Becher, Cathrine Thomsen, Jon Øyvind Odland, Merete Eggesbø, Matthew P. Longnecker, Jens V. Jørgensen
Publikováno v:
Environmental Research
Brominated flame retardants (BFRs) have been in widespread use in a vast array of consumer products since the 1970s. The metabolites of some BFRs show a structural similarity to thyroid hormones and experimental animal studies have confirmed that the