Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants

by Annika Ohlsson, Katarina Rehnholm, Kumar Shubham, Ulrika von Döbeln
Published 2019-10-01

Gunnar Jungner and the Principles and Practice of Screening for Disease

by Lars Jungner, Ingmar Jungner, Martin Engvall, Ulrika von Döbeln
Published 2017-08-01

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

by Mattias Andréasson, Rolf H. Zetterström, Ulrika von Döbeln, Anna Wedell, Per Svenningsson
Published 2019-05-01

Screening for C3 deficiency in newborns using microarrays.

by Magdalena Janzi, Ronald Sjöberg, Jinghong Wan, Björn Fischler, Ulrika von Döbeln, Lourdes Isaac, Peter Nilsson, Lennart Hammarström
Published 2009-01-01

Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidation.

by Xiaoshan Zhou, Kristina Kannisto, Sophie Curbo, Ulrika von Döbeln, Kjell Hultenby, Sindra Isetun, Mats Gåfvels, Anna Karlsson
Published 2013-01-01

Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases.

by Stephan Borte, Magdalena Janzi, Qiang Pan-Hammarström, Ulrika von Döbeln, Lennart Nordvall, Jacek Winiarski, Anders Fasth, Lennart Hammarström
Published 2012-01-01

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

by Rolf H. Zetterström, Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström
Published 2017-05-01

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

by Titus Schlinzig, Stefan Johansson, Olof Stephansson, Lennart Hammarström, Rolf H Zetterström, Ulrika von Döbeln, Sven Cnattingius, Mikael Norman
Published 2017-01-01

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

by Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, Rolf H. Zetterström
Published 2020-05-01

First Year of TREC-Based National SCID Screening in Sweden

by 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
Published 2021-08-01

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

by Mahya Dezfouli, Mahya Dezfouli, Sofia Bergström, Lillemor Skattum, Lillemor Skattum, Hassan Abolhassani, Hassan Abolhassani, Maja Neiman, Monireh Torabi-Rahvar, Clara Franco Jarava, Andrea Martin-Nalda, Juana M. Ferrer Balaguer, Charlotte A. Slade, Charlotte A. Slade, Anja Roos, Luis M. Fernandez Pereira, Margarita López-Trascasa, Luis I. Gonzalez-Granado, Luis M. Allende-Martinez, Yumi Mizuno, Yusuke Yoshida, Vanda Friman, Åsa Lundgren, Asghar Aghamohammadi, Nima Rezaei, Manuel Hernández-Gonzalez, Ulrika von Döbeln, Lennart Truedsson, Toshiro Hara, Shigeaki Nonoyama, Jochen M. Schwenk, Peter Nilsson, Lennart Hammarström
Published 2020-03-01

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

by 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
Published 2021-03-01