Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Rolf D Pettersen"'
Autor:
Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves, Rolf D. Pettersen
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 1, p 3 (2023)
Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocystei
Externí odkaz:
https://doaj.org/article/87bd0822705b40aab19d97a775a9f4d1
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:
Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid, Piero Rinaldo
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 23 (2021)
Newborn screening for congenital hypothyroidism remains challenging decades after broad implementation worldwide. Testing protocols are not uniform in terms of targets (TSH and/or T4) and protocols (parallel vs. sequential testing; one or two specime
Externí odkaz:
https://doaj.org/article/067a1ce7f8054700bd2a9e137d4cc7c0
Autor:
J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 15 (2021)
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass
Externí odkaz:
https://doaj.org/article/b2da148c817c463e8d75115a3ccc2d88
Autor:
Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 3, p 51 (2020)
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://doaj.org/article/ee83f4da7b56404183a2012eb12ea9e8
Publikováno v:
Pediatric Cardiology
In the fetus, the cardiac neural crest gives rise to both the thymus and the conotruncus of the heart. In newborn screening for severe T-cell lymphopenia neonates with congenital heart defects may be detected. In this study, we investigated the occur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be079a5339ace6248ed008642b67921f
https://doi.org/10.1007/s00246-020-02317-y
https://doi.org/10.1007/s00246-020-02317-y
Publikováno v:
Blood. 140:2609-2609
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23e1fbad887c3db220bc43f74833fe0c
https://doi.org/10.1182/blood-2022-157887
https://doi.org/10.1182/blood-2022-157887
Autor:
Christopher Nixon, Amy C Smith, Anna Fornari, Andrew P. Norgan, Sainan Wei, Lars Mørkrid, Norma P. Tavakoli, Vaneet Arora, Bobby J Miller, Joseph J. Orsini, Rolf Zetterström, Rolf D. Pettersen, Gregg Marquardt, Piero Rinaldo, Robert J. Currier, Patricia L. Hall, Michele Caggana, Amy L Piazza, Hao Tang, Stephanie D Stoway, Neil R Schubauer, Henrik Åhlman, Alexander D. Rowe, Arthur Hagar
Publikováno v:
International Journal of Neonatal Screening
Volume 7
Issue 2
International Journal of Neonatal Screening, Vol 7, Iss 23, p 23 (2021)
Volume 7
Issue 2
International Journal of Neonatal Screening, Vol 7, Iss 23, p 23 (2021)
Newborn screening for congenital hypothyroidism remains challenging decades after broad implementation worldwide. Testing protocols are not uniform in terms of targets (TSH and/or T4) and protocols (parallel vs. sequential testing
one or two spe
one or two spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93658e7f01026cb6de2674b4f7629447
Autor:
Lars Mørkrid, Erik A. Eklund, Anne-Lise Bjørke-Monsen, Henriette Astrup, Rolf D. Pettersen, Henriette Paulsen, Trine Tangeraas, Ulf Wike Ljungblad, Terje Rootwelt, Helle Borgstrøm Hager, Morten Lindberg
Publikováno v:
European journal of paediatric neurology
Background Previous studies have demonstrated a high prevalence of biochemical vitamin B12 deficiency in infants in Norway. Increased total homocysteine (tHcy) is the most important marker of B12 deficiency in infants. There is a need to evaluate its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9dd993dfa853c5531e2c9d9b069f0a3
https://pubmed.ncbi.nlm.nih.gov/34717141
https://pubmed.ncbi.nlm.nih.gov/34717141
Autor:
Eirik Nestaas, Katja Benedikte Prestø Elgstøen, Sissel J. Moltu, Drude Fugelseth, Rolf D. Pettersen, Helge Rootwelt, Magnus Domellöf, Are Hugo Pripp, Tom Stiris, Bjørn Steen Skålhegg, Kristina Wendel, Helle Cecilie Viekilde Pfeiffer
Publikováno v:
BMC Pediatrics
BMC Pediatrics, Vol 21, Iss 1, Pp 1-11 (2021)
BMC Pediatrics, Vol 21, Iss 1, Pp 1-11 (2021)
Background Current nutritional management of infants born very preterm results in significant deficiency of the essential fatty acids (FAs) arachidonic acid (ARA) and docosahexaenoic acid (DHA). The impact of this deficit on brain maturation and infl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d059ba0d777ca91193e33f6973dcdea0
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-180479
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-180479
