Ulrika Von Döbeln - Centre for Inherited Metabolic Diseases, Karolinska University Hospital Solna

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论文共 129 篇作者统计合作学者相似作者

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Congenital Hypothyroidism and School Achievement in Adolescence: A Population-based Sibling Control Study

Anna Gunnerbeck,Cecilia Lundholm,Ulrika von Doeurobeln, Rolf H. Zetterstroeurom,Catarina Almqvist, Anna Nordenstroeurom

The Journal of pediatrics (2024): 114240-114240

引用0浏览0WOS引用

Neonatal screening for congenital hypothyroidism in Sweden 1980-2013: effects of lowering the thyroid-stimulating hormone threshold

Anna Gunnerbeck,Cecilia Lundholm,Ulrika von Dobeln,Rolf H. Zetterstrom,Catarina Almqvist,Anna Nordenstrom

European journal of endocrinology（2023）

引用0浏览0WOS引用

Integration of Whole Genome Sequencing into a Healthcare Setting: High Diagnostic Rates Across Multiple Clinical Entities in 3219 Rare Disease Patients

Karolinska University Hospital,Magnusson Måns,Arnell Henrik,Johansson Carolina Backman,Barbaro Michela, Karolinska Institutet,Jemt Anders, Laaksonen Mikael,Enoksson Sara Lind,Naess Karin,Oscarson Mikael,Rasi Chiara,Rosenbaum Adam,Töhönen Virpi,von Döbeln Ulrika,Vonlanthen Sofie,Wikström Ann-Charlotte,Winqvist Ola,Marits Per, KTH Royal Institutet of Technology

Genome medicine（2021）

引用102浏览0WOS引用

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Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain

Karin Naess,Helene Bruhn,Henrik Stranneheim,Christoph Freyer,Rolf Wibom,Arnaud Mourier,Martin Engvall,Inger Nennesmo,Nicole Lesko,Anna Wredenberg,Anna Wedell,Ulrika von Dobeln

The Journal of Pediatrics（2021）

引用7浏览0WOS引用

First Year of TREC-Based National SCID Screening in Sweden

Christina Gongrich,Olov Ekwall,Mikael Sundin,Nicholas Brodszki,Anders Fasth,Per Marits, Sam Dysting,Susanne Jonsson,Michela Barbaro,Anna Wedell,Ulrika von Dobeln,Rolf H. Zetterstrom

International journal of neonatal screening（2021）

引用9浏览0WOS引用

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

Lene Sorensen,Ulrika von Dobeln,Henrik Ahlman,Annika Ohlsson,Martin Engvall,Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist,Anna Wedell,Rolf H. Zetterstrom

International journal of neonatal screeningno. 2 (2020): 42-42

引用12浏览0WOS引用

Integration Of Genome Sequencing Into Health Care - Experiences From 3211 Rare Disease Patients Show High Diagnostic Rates Across Multiple Clinical Entities

A. Lindstrand,H. Stranneheim,K. Lagerstedt-Robinson,M. Kvarnung,N. Lesko,D. Nilsson,B. Anderlid,H. Arnell, C. Backman Johansson,M. Barbaro,E. Bjorck,H. Bruhn,J. Eisfeldt,M. Engvall,C. Freyer,G. Grigelioniene,P. Gustavsson,A. Hammarsjo,M. Hellstrom-Pigg,A. Jemt, M. Laaksonen, S. Lind Enoksson,M. Magnusson,H. Malmgren,K. Naess,M. Nordenskjold,M. Oscarson,M. Pettersson,C. Rasi,A. Rosenbaum,E. Sahlin,T. Stodberg,B. Tesi,E. Tham,H. Thonberg,U. Von Dobeln, S. Vonlanthen, A. Wikstrom,J. Wincent,O. Winqvist,A. Wredenberg,S. Ygberg,R. H. Zetterstrom,P. Marits, M. Johansson-Soller,M. Johansson Soller,A. Nordgren,V. Wirta,A. Wedell

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

引用1浏览0引用

Mcee Mutations In An Adult Patient With Parkinson'S Disease, Dementia, Stroke And Elevated Levels Of Methylmalonic Acid

Mattias Andreasson,Rolf H. Zetterstroem,Ulrika Von Doebeln,Anna Wedell,Per Svenningsson

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2019）

引用7浏览0WOS引用

Incidence Of Glucose-6-Phosphate Dehydrogenase Deficiency Among Swedish Newborn Infants

Annika Ohlsson, Katarina Rehnholm, Kumar Shubham,Ulrika Von Dobeln

INTERNATIONAL JOURNAL OF NEONATAL SCREENING（2019）

引用6浏览0WOS引用

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