Works by Ulrika Von Döbeln

Results: 22

Energy substrate metabolism in pyruvate dehydrogenase complex deficiency.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 11/12, p. 1059, doi. 10.1515/jpem-2013-0423

By:

Stenlid, Maria Halldin;
Ahlsson, Fredrik;
Forslund, Anders;
von Döbeln, Ulrika;
Gustafsson, Jan

Publication type:

Article

Profound biotinidase deficiency: a rare disease among native Swedes.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 175, doi. 10.1007/s10545-010-9065-y

By:

Ohlsson, Annika;
Guthenberg, Claes;
Holme, Elisabeth;
von Döbeln, Ulrika

Publication type:

Article

Secondary metabolic effects in complex I deficiency.

Published in:

Annals of Neurology, 2005, v. 58, n. 4, p. 544

By:

Nayla Esteitie;
Reetta Hinttala;
Rolf Wibom;
Helene Nilsson;
Nicole Hance;
Karin Naess;
Kristina Teär‐Fahnehjelm;
Ulrika Von Döbeln;
Kari Majamaa;
Nils‐Göran Larsson

Publication type:

Article

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

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 921, doi. 10.1186/1471-2164-15-1090

By:

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

Publication type:

Article

First Year of TREC-Based National SCID Screening in Sweden.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030059

By:

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.

Publication type:

Article

Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.

Published in:

Acta Ophthalmologica (1755375X), 2008, v. 86, n. 3, p. 329, doi. 10.1111/j.1600-0420.2007.01121.x

By:

Fahnehjelm, Kristina Teär;
Holmström, Gerd;
Liu Ying;
Haglind, Charlotte Bieneck;
Nordenström, Anna;
Halldin, Maria;
Alm, Jan;
Nemeth, Antal;
von Döbeln, Ulrika

Publication type:

Article

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.

Published in:

Human Mutation, 1992, v. 1, n. 2, p. 129, doi. 10.1002/humu.1380010208

By:

Sevensson, Elisabeth;
Eisensmith, Randy C.;
Dworniczak, Bernd;
von Döbeln, Ulrika;
Hagenfeldt, Lars;
Horst, Jürgen;
Woo, Savio L. C.

Publication type:

Article

A clinical guide to inherited metabolic diseases, by J.T.R. Clarke.

Published in:

2008

By:

von Döbeln, Ulrika

Publication type:

Book Review

Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT).

Published in:

Acta Paediatrica, 2008, v. 97, n. 8, p. 1108, doi. 10.1111/j.1651-2227.2008.00811.x

By:

Malm, Gunilla;
Gustafsson, Britt;
Berglund, Gunilla;
Lindström, Maria;
Naess, Karin;
Borgström, Birgit;
von Döbeln, Ulrika;
Ringdén, Olle

Publication type:

Article

Clarke JTR. A Clinical Guide to Inherited Metabolic Diseases . Second edition. Cambridge: Cambridge University Press, 2002. 289 pp. Price USD 40. ISBN 0 21 89076 4.

Published in:

2003

By:

von Döbeln, Ulrika

Publication type:

Book Review

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

Published in:

PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184748

By:

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

Publication type:

Article

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

Published in:

European Journal of Endocrinology, 2023, v. 188, n. 6, p. 536, doi. 10.1093/ejendo/lvad064

By:

Gunnerbeck, Anna;
Lundholm, Cecilia;
von Döbeln, Ulrika;
Zetterström, Rolf H.;
Almqvist, Catarina;
Nordenström, Anna

Publication type:

Article

Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs.

Published in:

BMC Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2156-9-54

By:

Hannelius, Ulf;
Salmela, Elina;
Lappalainen, Tuuli;
Guillot, Gilles;
Lindgren, Cecilia M.;
von Döbeln, Ulrika;
Lahermo, Päivi;
Kere, Juha

Publication type:

Article

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

Published in:

2018

By:

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

Publication type:

Letter to the Editor

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

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 11, p. 2631, doi. 10.3390/ijms20112631

By:

Andréasson, Mattias;
Zetterström, Rolf H.;
von Döbeln, Ulrika;
Wedell, Anna;
Svenningsson, Per

Publication type:

Article

Newborn screening for primary immunodeficiencies: beyond SCID and XLA.

Published in:

Annals of the New York Academy of Sciences, 2011, v. 1246, n. 1, p. 118, doi. 10.1111/j.1749-6632.2011.06350.x

By:

Borte, Stephan;
Wang, Ning;
Óskarsdóttir, Sólveig;
von Döbeln, Ulrika;
Hammarström, Lennart

Publication type:

Article

Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study.

Published in:

2014

By:

Gidlöf, Sebastian;
Wedell, Anna;
Guthenberg, Claes;
von Döbeln, Ulrika;
Nordenström, Anna

Publication type:

Journal Article

Thymidine Kinase 2 Deficiency-Induced mtDNA Depletion in Mouse Liver Leads to Defect β-Oxidation.

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058843

By:

Zhou, Xiaoshan;
Kannisto, Kristina;
Curbo, Sophie;
von Döbeln, Ulrika;
Hultenby, Kjell;
Isetun, Sindra;
Gåfvels, Mats;
Karlsson, Anna

Publication type:

Article

Placental Transfer of Maternally-Derived IgA Precludes the Use of Guthrie Card Eluates as a Screening Tool for Primary Immunodeficiency Diseases.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043419

By:

Gray, Clive M.;
Borte, Stephan;
Janzi, Magdalena;
Pan-Hammarström, Qiang;
Von Döbeln, Ulrika;
Nordvall, Lennart;
Winiarski, Jacek;
Fasth, Anders;
Hammarström, Lennart

Publication type:

Article

Screening for C3 Deficiency in Newborns Using Microarrays.

Published in:

PLoS ONE, 2009, v. 4, n. 4, p. 1, doi. 10.1371/journal.pone.0005321

By:

Janzi, Magdalena;
Sjöberg, Ronald;
Jinghong Wan;
Fischler, Björn;
von Döbeln, Ulrika;
Isaac, Lourdes;
Nilsson, Peter;
Hammarström, Lennart

Publication type:

Article

Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency.

Published in:

Acta Ophthalmologica (1755375X), 2012, v. 90, n. 1, p. 32, doi. 10.1111/j.1755-3768.2010.01865.x

By:

Fahnehjelm, Kristina Teär;
Olsson, Monica;
Naess, Karin;
Wiberg, Maria;
Ygge, Jan;
Martin, Lene;
von Döbeln, Ulrika

Publication type:

Article

Myelodysplastic features and symptoms mimicking cystic fibrosis in a child with an intracellular vitamin B 12 deficiency.

Published in:

Pediatric Blood & Cancer, 2007, v. 49, n. 7, p. 1054, doi. 10.1002/pbc.21137

By:

Gustafsson, Britt;
Karpati, Ferenc;
Nordenstrom, Anna;
Söderhäll, Stefan;
Sander, Birgitta;
Nordvall, Maria;
von Döbeln, Ulrika

Publication type:

Article