Surge of immune cell formation at birth differs by mode of delivery and infant characteristics-A population-based cohort study
Schlinzig, Titus, Johansson, Stefan, Stephansson, Olof, Hammarström, Lennart, Zetterström, Rolf H, von Döbeln, Ulrika, Cnattingius, Sven, Norman, Mikael
Published in PloS one (14.09.2017)
Published in PloS one (14.09.2017)
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
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
Published in Genome medicine (17.03.2021)
Published in Genome medicine (17.03.2021)
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Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR
Borte, Stephan, von Döbeln, Ulrika, Fasth, Anders, Wang, Ning, Janzi, Magdalena, Winiarski, Jacek, Sack, Ulrich, Pan-Hammarström, Qiang, Borte, Michael, Hammarström, Lennart
Published in Blood (15.03.2012)
Published in Blood (15.03.2012)
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Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
Bjursell, Magnus K., Blom, Henk J., Cayuela, Jordi Asin, Engvall, Martin L., Lesko, Nicole, Balasubramaniam, Shanti, Brandberg, Göran, Halldin, Maria, Falkenberg, Maria, Jakobs, Cornelis, Smith, Desiree, Struys, Eduard, von Döbeln, Ulrika, Gustafsson, Claes M., Lundeberg, Joakim, Wedell, Anna
Published in American journal of human genetics (07.10.2011)
Published in American journal of human genetics (07.10.2011)
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One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study
Gidlöf, Sebastian, Dr, Falhammar, Henrik, MD, Thilén, Astrid, MD, von Döbeln, Ulrika, MD, Ritzén, Martin, Prof, Wedell, Anna, Prof, Nordenström, Anna, MD
Published in The lancet. Diabetes & endocrinology (01.09.2013)
Published in The lancet. Diabetes & endocrinology (01.09.2013)
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Costs associated with treatment of severe combined immunodeficiency—rationale for newborn screening in Sweden
Gardulf, Ann, RN, PhD, Winiarski, Jacek, MD, PhD, Thorin, Moa, BSc, Heibert Arnlind, Marianne, RN, PhD, MPH, von Döbeln, Ulrika, MD, PhD, Hammarström, Lennart, MD, PhD
Published in Journal of allergy and clinical immunology (01.05.2017)
Published in Journal of allergy and clinical immunology (01.05.2017)
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Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
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
Published in BMC genomics (11.12.2014)
Published in BMC genomics (11.12.2014)
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Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies
Dezfouli, Mahya, Bergström, Sofia, Skattum, Lillemor, Abolhassani, Hassan, Neiman, Maja, Torabi-Rahvar, Monireh, Franco Jarava, Clara, Martin-Nalda, Andrea, Ferrer Balaguer, Juana M, Slade, Charlotte A, Roos, Anja, Fernandez Pereira, Luis M, López-Trascasa, Margarita, Gonzalez-Granado, Luis I, Allende-Martinez, Luis M, Mizuno, Yumi, Yoshida, Yusuke, Friman, Vanda, Lundgren, Åsa, Aghamohammadi, Asghar, Rezaei, Nima, Hernández-Gonzalez, Manuel, von Döbeln, Ulrika, Truedsson, Lennart, Hara, Toshiro, Nonoyama, Shigeaki, Schwenk, Jochen M, Nilsson, Peter, Hammarström, Lennart
Published in Frontiers in immunology (17.03.2020)
Published in Frontiers in immunology (17.03.2020)
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Kappa‐deleting recombination excision circle levels remain low or undetectable throughout life in patients with X‐linked agammaglobulinemia
King, Jovanka, Borte, Stephan, Brodszki, Nicholas, von Döbeln, Ulrika, Smith, C. I. Edvard, Hammarström, Lennart
Published in Pediatric allergy and immunology (01.06.2018)
Published in Pediatric allergy and immunology (01.06.2018)
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First Year of TREC-Based National SCID Screening in Sweden
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.
Published in International journal of neonatal screening (25.08.2021)
Published in International journal of neonatal screening (25.08.2021)
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Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies
Borte, Stephan, MD, Meeths, Marie, MD, PhD, Liebscher, Ines, MD, Krist, Kerstin, Nordenskjöld, Magnus, MD, PhD, Hammarström, Lennart, MD, PhD, von Döbeln, Ulrika, MD, PhD, Henter, Jan-Inge, MD, PhD, Bryceson, Yenan T., PhD
Published in Journal of allergy and clinical immunology (01.07.2014)
Published in Journal of allergy and clinical immunology (01.07.2014)
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Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases
Verstegen, Ruud H.J., MD, Borte, Stephan, MD, Bok, Levinus A., MD, van Zwieten, Paul H.Th., MD, von Döbeln, Ulrika, MD, PhD, Hammarström, Lennart, MD, PhD, de Vries, Esther, MD, PhD
Published in Journal of allergy and clinical immunology (01.04.2014)
Published in Journal of allergy and clinical immunology (01.04.2014)
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Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases
Borte, Stephan, Janzi, Magdalena, Pan-Hammarström, Qiang, von Döbeln, Ulrika, Nordvall, Lennart, Winiarski, Jacek, Fasth, Anders, Hammarström, Lennart
Published in PloS one (16.08.2012)
Published in PloS one (16.08.2012)
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Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidation
Zhou, Xiaoshan, Kannisto, Kristina, Curbo, Sophie, von Döbeln, Ulrika, Hultenby, Kjell, Isetun, Sindra, Gåfvels, Mats, Karlsson, Anna
Published in PloS one (07.03.2013)
Published in PloS one (07.03.2013)
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Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
Sörensen, Lene, von Döbeln, Ulrika, Åhlman, Henrik, Ohlsson, Annika, Engvall, Martin, Naess, Karin, Backman-Johansson, Carolina, Nordqvist, Yvonne, Wedell, Anna, Zetterström, Rolf H
Published in International journal of neonatal screening (01.06.2020)
Published in International journal of neonatal screening (01.06.2020)
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Profound biotinidase deficiency: a rare disease among native Swedes
Ohlsson, Annika, Guthenberg, Claes, Holme, Elisabeth, von Döbeln, Ulrika
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT)
Malm, Gunilla, Gustafsson, Britt, Berglund, Gunilla, Lindström, Maria, Naess, Karin, Borgström, Birgit, Von Döbeln, Ulrika, Ringdén, Olle
Published in Acta Paediatrica (01.08.2008)
Published in Acta Paediatrica (01.08.2008)
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