The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients

por Lajic, Svetlana, Karlsson, Leif, Zetterström, Rolf H., Falhammar, Henrik, Nordenström, Anna
Publicado 2020

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

por Zetterström, Rolf H., Karlsson, Leif, Falhammar, Henrik, Lajic, Svetlana, Nordenström, Anna
Publicado 2020

MCEE Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid

por Andréasson, Mattias, Zetterström, Rolf H., von Döbeln, Ulrika, Wedell, Anna, Svenningsson, Per
Publicado 2019

Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels

por Äng, Christofer, Zetterström, Rolf H., Ramme, Kim, Axelsen, Emma, Marits, Per, Sundin, Mikael
Publicado 2023

Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

por Olsson, David, Barbaro, Michela, Haglind, Charlotte, Halldin, Maria, Lajic, Svetlana, Tucci, Sara, Zetterström, Rolf H., Nordenström, Anna
Publicado 2022

Surge of immune cell formation at birth differs by mode of delivery and infant characteristics—A population-based cohort study

por Schlinzig, Titus, Johansson, Stefan, Stephansson, Olof, Hammarström, Lennart, Zetterström, Rolf H., von Döbeln, Ulrika, Cnattingius, Sven, Norman, Mikael
Publicado 2017

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study

por Barbaro, Michela, Ohlsson, Annika, Borte, Stephan, Jonsson, Susanne, Zetterström, Rolf H., King, Jovanka, Winiarski, Jacek, von Döbeln, Ulrika, Hammarström, Lennart
Publicado 2016

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

por Sörensen, Lene, von Döbeln, Ulrika, Åhlman, Henrik, Ohlsson, Annika, Engvall, Martin, Naess, Karin, Backman-Johansson, Carolina, Nordqvist, Yvonne, Wedell, Anna, Zetterström, Rolf H.
Publicado 2020

First Year of TREC-Based National SCID Screening in Sweden

por Göngrich, Christina, Ekwall, Olov, Sundin, Mikael, Brodszki, Nicholas, Fasth, Anders, Marits, Per, Dysting, Sam, Jonsson, Susanne, Barbaro, Michela, Wedell, Anna, von Döbeln, Ulrika, Zetterström, Rolf H.
Publicado 2021

Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia

por Bonham, James R., Carling, Rachel S., Lindner, Martin, Franzson, Leifur, Zetterstrom, Rolf, Boemer, Francois, Cerone, Roberto, Eyskens, Francois, Vilarinho, Laura, Hougaard, David M., Schielen, Peter C.J.I.
Publicado 2018

Newborn Screening in a Pandemic—Lessons Learned

por Mlinaric, Matej, Bonham, James R., Kožich, Viktor, Kölker, Stefan, Majek, Ondrej, Battelino, Tadej, Torkar, Ana Drole, Koracin, Vanesa, Perko, Dasa, Remec, Ziga Iztok, Lampret, Barbka Repic, Scarpa, Maurizio, Schielen, Peter C. J. I., Zetterström, Rolf H., Groselj, Urh
Publicado 2023

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

por Stranneheim, Henrik, Engvall, Martin, Naess, Karin, Lesko, Nicole, Larsson, Pontus, Dahlberg, Mats, Andeer, Robin, Wredenberg, Anna, Freyer, Chris, Barbaro, Michela, Bruhn, Helene, Emahazion, Tesfail, Magnusson, Måns, Wibom, Rolf, Zetterström, Rolf H, Wirta, Valtteri, von Döbeln, Ulrika, Wedell, Anna
Publicado 2014

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

por Freyer, Christoph, Stranneheim, Henrik, Naess, Karin, Mourier, Arnaud, Felser, Andrea, Maffezzini, Camilla, Lesko, Nicole, Bruhn, Helene, Engvall, Martin, Wibom, Rolf, Barbaro, Michela, Hinze, Yvonne, Magnusson, Måns, Andeer, Robin, Zetterström, Rolf H, von Döbeln, Ulrika, Wredenberg, Anna, Wedell, Anna
Publicado 2015

Towards Achieving Equity and Innovation in Newborn Screening across Europe

por Sikonja, Jaka, Groselj, Urh, Scarpa, Maurizio, la Marca, Giancarlo, Cheillan, David, Kölker, Stefan, Zetterström, Rolf H., Kožich, Viktor, Le Cam, Yann, Gumus, Gulcin, Bottarelli, Valentina, van der Burg, Mirjam, Dekkers, Eugenie, Battelino, Tadej, Prevot, Johan, Schielen, Peter C. J. I., Bonham, James R.
Publicado 2022

Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs

por Framme, Jenny Lingman, Lundqvist, Christina, Lundell, Anna-Carin, van Schouwenburg, Pauline A., Lemarquis, Andri L., Thörn, Karolina, Lindgren, Susanne, Gudmundsdottir, Judith, Lundberg, Vanja, Degerman, Sofie, Zetterström, Rolf H., Borte, Stephan, Hammarström, Lennart, Telemo, Esbjörn, Hultdin, Magnus, van der Burg, Mirjam, Fasth, Anders, Oskarsdóttir, Sólveig, Ekwall, Olov
Publicado 2022

A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools

por Rowe, Alexander D., Stoway, Stephanie D., Åhlman, Henrik, Arora, Vaneet, Caggana, Michele, Fornari, Anna, Hagar, Arthur, Hall, Patricia L., Marquardt, Gregg C., Miller, Bobby J., Nixon, Christopher, Norgan, Andrew P., Orsini, Joseph J., Pettersen, Rolf D., Piazza, Amy L., Schubauer, Neil R., Smith, Amy C., Tang, Hao, Tavakoli, Norma P., Wei, Sainan, Zetterström, Rolf H., Currier, Robert J., Mørkrid, Lars, Rinaldo, Piero
Publicado 2021

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

por Tangeraas, Trine, Sæves, Ingjerd, Klingenberg, Claus, Jørgensen, Jens, Kristensen, Erle, Gunnarsdottir, Gunnþórunn, Hansen, Eirik Vangsøy, Strand, Janne, Lundman, Emma, Ferdinandusse, Sacha, Salvador, Cathrin Lytomt, Woldseth, Berit, Bliksrud, Yngve T., Sagredo, Carlos, Olsen, Øyvind E., Berge, Mona C., Trømborg, Anette Kjoshagen, Ziegler, Anders, Zhang, Jin Hui, Sørgjerd, Linda Karlsen, Ytre-Arne, Mari, Hogner, Silje, Løvoll, Siv M., Kløvstad Olavsen, Mette R., Navarrete, Dionne, Gaup, Hege J., Lilje, Rina, Zetterström, Rolf H., Stray-Pedersen, Asbjørg, Rootwelt, Terje, Rinaldo, Piero, Rowe, Alexander D., Pettersen, Rolf D.
Publicado 2020

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

por Loeber, J. Gerard, Platis, Dimitris, Zetterström, Rolf H., Almashanu, Shlomo, Boemer, François, Bonham, James R., Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O’Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D., Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C.J.I.
Publicado 2021

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

por Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna
Publicado 2021