Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Rolf H, Zetterström"'
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
This report illustrates a case that would have been missed in the most common screening algorithms used worldwide in newborn screening (NBS) for severe combined immunodeficiency (SCID). Our patient presented with a clinical picture that suggested a s
Externí odkaz:
https://doaj.org/article/1c268ad9a06d468c851c7b2051401294
Autor:
David Olsson, Michela Barbaro, Charlotte Haglind, Maria Halldin, Svetlana Lajic, Sara Tucci, Rolf H. Zetterström, Anna Nordenström
Publikováno v:
JIMD Reports, Vol 63, Iss 2, Pp 181-190 (2022)
Abstract Very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is a recessive disorder of fatty acid beta‐oxidation with variable phenotype. Patients may present during the neonatal period with lethal multi‐organ failure or during adulth
Externí odkaz:
https://doaj.org/article/8328a7b424524de6862a3d3efb445668
Autor:
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Abstract Background We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD repr
Externí odkaz:
https://doaj.org/article/24239a4e507a406db912b81371637d5d
Autor:
Matej Mlinaric, James R. Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterström, Urh Groselj
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 2, p 21 (2023)
The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pand
Externí odkaz:
https://doaj.org/article/d1e0d653a37a462d8bb60eb6f67c5f2c
Autor:
Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 31 (2022)
Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected
Externí odkaz:
https://doaj.org/article/9c26c957b0634de1b6a97cccf0d90965
Autor:
Christina Göngrich, Olov Ekwall, Mikael Sundin, Nicholas Brodszki, Anders Fasth, Per Marits, Sam Dysting, Susanne Jonsson, Michela Barbaro, Anna Wedell, Ulrika von Döbeln, Rolf H. Zetterström
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 59 (2021)
Screening for severe combined immunodeficiency (SCID) was introduced into the Swedish newborn screening program in August 2019 and here we report the results of the first year. T cell receptor excision circles (TRECs), kappa-deleting element excision
Externí odkaz:
https://doaj.org/article/4d21b092903e41e79229b23837025062
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
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 3, p 71 (2020)
Congenital adrenal hyperplasia (CAH) was the fourth disorder added to the national Swedish neonatal screening program in 1986, and approximately 115,000 newborns are screened annually. Dried blood spot (DBS) screening with measurement of 17-hydroxypr
Externí odkaz:
https://doaj.org/article/88728411b2b34c108d3df776fd82629b
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 3, p 68 (2020)
Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is now performed in an increasing number of countries all over the world. The main goal of the screening is to achieve early diagnosis and treatment in order to pr
Externí odkaz:
https://doaj.org/article/f5470f832d3d48f0acbc2d9e9bcb7e66