Ulrika von Döbeln - Publications, H-index & Citations

Ulrika von Döbeln

Kyushu University

36H指数

106论文数

4.1K被引数

收录论文 29

发表时间

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

JOURNAL OF PEDIATRICS

IF3.5

2024-12-01

PREAI

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

Neonatal screening for congenital hypothyroidism in Sweden 1980-2013: effects of lowering the thyroid-stimulating hormone threshold 瑞典新生儿先天性甲状腺功能减退症筛查1980-2013: 降低促甲状腺激素阈值的影响

EUROPEAN JOURNAL OF ENDOCRINOLOGY

IF5.2

2023-06-12

OAAI

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

First Year of TREC-Based National SCID Screening in Sweden 瑞典基于TREC的国家SCID筛查的第一年

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2021-08-25

OAAI

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

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

JOURNAL OF PEDIATRICS

IF3.5

2021-01-01

PREAI

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

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

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2020-05-27

OAAI

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

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

FRONTIERS IN IMMUNOLOGY

IF5.9

2020-03-17

OAAI

Dezfouli, Mahya; Bergstrom, 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.; Lopez-Trascasa, Margarita; Gonzalez-Granado, Luis, I; Allende-Martinez, Luis M.; Mizuno, Yumi; Yoshida, Yusuke; Friman, Vanda; Lundgren, Asa; Aghamohammadi, Asghar; Rezaei, Nima; Hernandez-Gonzalez, Manuel; von Dobeln, Ulrika; Truedsson, Lennart; Hara, Toshiro; Nonoyama, Shigeaki; Schwenk, Jochen M.; Nilsson, Peter; Hammarstrom, Lennart

Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia

PEDIATRIC ALLERGY AND IMMUNOLOGY

IF4.5

2018-04-15

PREAI

King, Jovanka; Borte, Stephan; Brodszki, Nicholas; von Dobeln, Ulrika; Smith, C. I. Edvard; Hammarstrom, Lennart

Costs associated with treatment of severe combined immunodeficiency-rationale for newborn screening in Sweden

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IF11.2

2017-05-01

OAAI

Gardulf, Ann; Winiarski, Jacek; Thorin, Moa; Arnlind, Marianne Heibert; von Dobeln, Ulrika; Hammarstrom, Lennart

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study 瑞典严重原发性免疫缺陷病的新生儿筛查-为期2年的TREC和KREC筛查研究

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2016-11-21

108

OAAI

Barbaro, Michela; Ohlsson, Annika; Borte, Stephan; Jonsson, Susanne; Zetterstrom, Rolf H.; King, Jovanka; Winiarski, Jacek; von Dobeln, Ulrika; Hammarstrom, Lennart

The ketogenic diet compensates for AGC1 deficiency and improves myelination

EPILEPSIA

IF6.6

2015-09-24

OAAI

Dahlin, Maria; Martin, Daniel A.; Hedlund, Zandra; Jonsson, Monica; von Dobeln, Ulrika; Wedell, Anna

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid 使用2，4-二羟基苯甲酸挽救由于新型COQ7缺陷引起的原发性泛醌缺乏症

JOURNAL OF MEDICAL GENETICS

IF3.7

2015-06-17

OAAI

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, Mans; Andeer, Robin; Zetterstrom, Rolf H.; von Dobeln, Ulrika; Wredenberg, Anna; Wedell, Anna

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IF11.2

2014-07-01

PREAI

Borte, Stephan; Meeths, Marie; Liebscher, Ines; Krist, Kerstin; Nordenskjold, Magnus; Hammarstrom, Lennart; von Dobeln, Ulrika; Henter, Jan-Inge; Bryceson, Yenan T.

Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden A 26-Year Longitudinal Prospective Population-Based Study

JAMA PEDIATRICS

IF18

2014-06-01

107

PREAI

Gidlof, Sebastian; Wedell, Anna; Guthenberg, Claes; von Dobeln, Ulrika; Nordenstrom, Anna

Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IF11.2

2014-04-01

PREAI

Verstegen, Ruud H. J.; Borte, Stephan; Bok, Levinus A.; van Zwieten, Paul H. Th; von Dobeln, Ulrika; Hammarstrom, Lennart; de Vries, Esther

Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome 22q11缺失综合征婴儿基于TREC的新生儿筛查结果及临床表型回顾性分析

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2014-03-09

PREAI

Framme, Jenny Lingman; Borte, Stephan; von Doebeln, Ulrika; Hammarstrm, Lennart; Oskarsdttir, Slveig

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

BMC GENOMICS

IF3.7

2014-01-01

OAAI

Stranneheim, Henrik; Engvall, Martin; Naess, Karin; Lesko, Nicole; Larsson, Pontus; Dahlberg, Mats; Andeer, Robin; Wredenberg, Anna; Freyer, Christoph; Barbaro, Michela; Bruhn, Helene; Emahazion, Tesfail; Magnusson, Mans; Wibom, Rolf; Zetterstrom, Rolf H.; Wirta, Valtteri; von Dobeln, Ulrika; Wedell, Anna

Visual Automated Fluorescence Electrophoresis Provides Simultaneous Quality, Quantity, and Molecular Weight Spectra for Genomic DNA from Archived Neonatal Blood Spots

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2013-05-01

OAAI

Klassen, Tara L.; Drabek, Janice; Tomson, Torjborn; Sveinsson, Olafur; von Dobeln, Ulrika; Noebels, Jeffrey L.; Goldman, Alicia M.

Guidelines for newborn screening of primary immunodeficiency diseases

CURRENT OPINION IN HEMATOLOGY

IF2.9

2013-01-01

OAAI

Borte, Stephan; von Dobelin, Ulrika; Hammarstrom, Lennart