Ulrika von Döbeln

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2021;7(3):59

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

Göngrich C; Ekwall O; Sundin M; Brodszki N; Fasth A; Marits P; Dysting S; Jonsson S; Barbaro M; Wedell A; von Döbeln U; Zetterström RH
Article: GENOME MEDICINE. 2021;13(1):40

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

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: JOURNAL OF PEDIATRICS. 2021;228:240-251.e2

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

Naess K; Bruhn H; Stranneheim H; Freyer C; Wibom R; Mourier A; Engvall M; Nennesmo I; Lesko N; Wredenberg A; Wedell A; von Döbeln U
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2020;6(2):42

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

Sörensen L; von Döbeln U; Åhlman H; Ohlsson A; Engvall M; Naess K; Backman-Johansson C; Nordqvist Y; Wedell A; Zetterström RH
Article: FRONTIERS IN IMMUNOLOGY. 2020;11:455

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.

Dezfouli M; Bergström S; Skattum L; Abolhassani H; Neiman M; Torabi-Rahvar M; Franco Jarava C; Martin-Nalda A; Ferrer Balaguer JM; Slade CA; Roos A; Fernandez Pereira LM; López-Trascasa M; Gonzalez-Granado LI; Allende-Martinez LM; Mizuno Y; Yoshida Y; Friman V; Lundgren Å; Aghamohammadi A; Rezaei N; Hernández-Gonzalez M; von Döbeln U; Truedsson L; Hara T; Nonoyama S; Schwenk JM; Nilsson P; Hammarström L
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2019;5(4):38

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

Ohlsson A; Rehnholm K; Shubham K; von Döbeln U
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2019;42(5):1008-1018

Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.

Ohlsson A; Hunt M; Wedell A; von Döbeln U
Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2019;20(11):E2631-2631

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

Andréasson M; Zetterström RH; von Döbeln U; Wedell A; Svenningsson P
Article: JIMD REPORTS. 2017;34:19-26

The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.

Ohlsson A; Bruhn H; Nordenström A; Zetterström RH; Wedell A; von Döbeln U
Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2017;37(1):51-60

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

Barbaro M; Ohlsson A; Borte S; Jonsson S; Zetterström RH; King J; Winiarski J; von Döbeln U; Hammarström L
Article: PLOS ONE. 2017;12(9):e0184748

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

Schlinzig T; Johansson S; Stephansson O; Hammarström L; Zetterström RH; von Döbeln U; Cnattingius S; Norman M
Article: LAKARTIDNINGEN. 2016;113:DSHI

[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving].

Oscarson M; Vassiliou D; Nordenström A; Nergårdh R; Wedell A; von Döbeln U
Article: JIMD REPORTS. 2016;28:75-84

Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.

Strandqvist A; Haglind CB; Zetterström RH; Nemeth A; von Döbeln U; Stenlid MH; Nordenström A
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(11):779-783

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

Freyer C; Stranneheim H; Naess K; Mourier A; Felser A; Maffezzini C; Lesko N; Bruhn H; Engvall M; Wibom R; Barbaro M; Hinze Y; Magnusson M; Andeer R; Zetterström RH; von Döbeln U; Wredenberg A; Wedell A
Article: EPILEPSIA. 2015;56(11):e176-e181

The ketogenic diet compensates for AGC1 deficiency and improves myelination.

Dahlin M; Martin DA; Hedlund Z; Jonsson M; von Döbeln U; Wedell A
Article: JOURNAL OF PROTEOMICS. 2015;126:155-162

Heat differentiated complement factor profiling.

Hamsten C; Skattum L; Truedsson L; von Döbeln U; Uhlén M; Schwenk JM; Hammarström L; Nilsson P; Neiman M
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2015;38(2):315-322

Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.

Haglind CB; Nordenström A; Ask S; von Döbeln U; Gustafsson J; Stenlid MH
Article: BMC GENOMICS. 2014;15(1):1090

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

Stranneheim H; Engvall M; Naess K; Lesko N; Larsson P; Dahlberg M; Andeer R; Wredenberg A; Freyer C; Barbaro M; Bruhn H; Emahazion T; Magnusson M; Wibom R; Zetterström RH; Wirta V; von Döbeln U; Wedell A
Article: ACTA PAEDIATRICA. 2014;103(12):1258-1263

Epidemiology of lysosomal storage diseases in Sweden.

Hult M; Darin N; von Döbeln U; Månsson J-E
Article: CLINICAL IMMUNOLOGY. 2014;155(1):74-78

Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome.

Borte S; Fasth A; von Döbeln U; Winiarski J; Hammarström L
Article: JOURNAL OF CLINICAL VIROLOGY. 2014;61(1):74-80

Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots.

de Bruin E; Loeber JG; Meijer A; Castillo GM; Cepeda MLG; Torres-Sepúlveda MR; Borrajo GJC; Caggana M; Giguere Y; Meyer M; Fukushi M; Devi ARR; Khneisser I; Vilarinho L; von Döbeln U; Torresani T; Mackenzie J; Zutt I; Schipper M; Elvers LH; Koopmans MPG
Article: JAMA PEDIATRICS. 2014;168(6):567-574

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

Gidlöf S; Wedell A; Guthenberg C; von Döbeln U; Nordenström A
Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2014;34(4):514-519

Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.

Lingman Framme J; Borte S; von Döbeln U; Hammarström L; Oskarsdóttir S
Article: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. 2014;27(11-12):1059-1064

Energy substrate metabolism in pyruvate dehydrogenase complex deficiency.

Stenlid MH; Ahlsson F; Forslund A; von Döbeln U; Gustafsson J
Article: LANCET DIABETES & ENDOCRINOLOGY. 2013;1(1):35-42

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.

Gidlöf S; Falhammar H; Thilén A; von Döbeln U; Ritzén M; Wedell A; Nordenström A
Article: JOURNAL OF MOLECULAR DIAGNOSTICS. 2013;15(3):283-290

Visual automated fluorescence electrophoresis provides simultaneous quality, quantity, and molecular weight spectra for genomic DNA from archived neonatal blood spots.

Klassen TL; Drabek J; Tomson T; Sveinsson O; von Döbeln U; Noebels JL; Goldman AM
Article: PLOS ONE. 2013;8(3):e58843

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

Zhou X; Kannisto K; Curbo S; von Döbeln U; Hultenby K; Isetun S; Gåfvels M; Karlsson A
Article: ACTA OTO-LARYNGOLOGICA. 2012;132(12):1301-1305

GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.

Carlsson P-I; Karltorp E; Carlsson-Hansén E; Åhlman H; Möller C; Vondöbeln U
Article: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY. 2012;34(5):364-367

KI, WU, and Merkel cell polyomavirus DNA was not detected in guthrie cards of children who later developed acute lymphoblastic leukemia.

Gustafsson B; Honkaniemi E; Goh S; Giraud G; Forestier E; von Döbeln U; Allander T; Dalianis T; Bogdanovic G
Article: BLOOD. 2012;119(11):2552-2555

Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.

Borte S; von Döbeln U; Fasth A; Wang N; Janzi M; Winiarski J; Sack U; Pan-Hammarström Q; Borte M; Hammarström L
Article: ACTA OPHTHALMOLOGICA. 2012;90(1):32-43

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

Fahnehjelm KT; Olsson M; Naess K; Wiberg M; Ygge J; Martin L; von Döbeln U
Article: JIMD REPORTS. 2012;4:67-73

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

Naess K; Barbaro M; Bruhn H; Wibom R; Nennesmo I; von Döbeln U; Larsson N-G; Nemeth A; Lesko N
Article: JIMD REPORTS. 2012;2:113-117

Galactosemia screening with low false-positive recall rate: the Swedish experience.

Ohlsson A; Guthenberg C; von Döbeln U
Article: PLOS ONE. 2012;7(8):e43419

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

Borte S; Janzi M; Pan-Hammarström Q; von Döbeln U; Nordvall L; Winiarski J; Fasth A; Hammarström L
Article: ANNALS OF THE NEW YORK ACADEMY OF SCIENCES. 2011;1246:118-130

Newborn screening for primary immunodeficiencies: beyond SCID and XLA.

Borte S; Wang N; Oskarsdóttir S; von Döbeln U; Hammarström L
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2011;89(4):507-515

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Bjursell MK; Blom HJ; Cayuela JA; Engvall ML; Lesko N; Balasubramaniam S; Brandberg G; Halldin M; Falkenberg M; Jakobs C; Smith D; Struys E; von Döbeln U; Gustafsson CM; Lundeberg J; Wedell A
Article: GENETICS IN MEDICINE. 2011;13(3):230-254

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

McHugh DMS; Cameron CA; Abdenur JE; Abdulrahman M; Adair O; Al Nuaimi SA; Åhlman H; Allen JJ; Antonozzi I; Archer S; Au S; Auray-Blais C; Baker M; Bamforth F; Beckmann K; Pino GB; Berberich SL; Binard R; Boemer F; Bonham J; Breen NN; Bryant SC; Caggana M; Caldwell SG; Camilot M; Campbell C; Carducci C; Bryant SC; Caggana M; Caldwell SG; Camilot M; Campbell C; Carducci C; Cariappa R; Carlisle C; Caruso U; Cassanello M; Castilla AM; Ramos DEC; Chakraborty P; Chandrasekar R; Ramos AC; Cheillan D; Chien Y-H; Childs TA; Chrastina P; Sica YC; de Juan JAC; Colandre ME; Espinoza VC; Corso G; Currier R; Cyr D; Czuczy N; D'Apolito O; Davis T; de Sain-Van der Velden MG; Delgado Pecellin C; Di Gangi IM; Di Stefano CM; Dotsikas Y; Downing M; Downs SM; Dy B; Dymerski M; Rueda I; Elvers B; Eaton R; Eckerd BM; El Mougy F; Eroh S; Espada M; Evans C; Fawbush S; Fijolek KF; Fisher L; Franzson L; Frazier DM; Garcia LRC; Bermejo MSG-V; Gavrilov D; Gerace R; Giordano G; Irazabal YG; Greed LC; Grier R; Grycki E; Gu X; Gulamali-Majid F; Hagar AF; Han L; Hannon WH; Haslip C; Hassan FA; He M; Hietala A; Himstedt L; Hoffman GL; Hoffman W; Hoggatt P; Hopkins PV; Hougaard DM; Hughes K; Hunt PR; Hwu W-L; Hynes J; Ibarra-González I; Ingham CA; Ivanova M; Jacox WB; John C; Johnson JP; Jónsson JJ; Karg E; Kasper D; Klopper B; Katakouzinos D; Khneisser I; Knoll D; Kobayashi H; Koneski R; Kozich V; Kouapei R; Kohlmueller D; Kremensky I; la Marca G; Lavochkin M; Lee S-Y; Lehotay DC; Lemes A; Lepage J; Lesko B; Lewis B; Lim C; Linard S; Lindner M; Lloyd-Puryear MA; Lorey F; Loukas YL; Luedtke J; Maffitt N; Magee JF; Manning A; Manos S; Marie S; Hadachi SM; Marquardt G; Martin SJ; Matern D; Mayfield Gibson SK; Mayne P; McCallister TD; McCann M; McClure J; McGill JJ; McKeever CD; McNeilly B; Morrissey MA; Moutsatsou P; Mulcahy EA; Nikoloudis D; Norgaard-Pedersen B; Oglesbee D; Oltarzewski M; Ombrone D; Ojodu J; Papakonstantinou V; Reoyo SP; Park H-D; Pasquali M; Pasquini E; Patel P; Pass KA; Peterson C; Pettersen RD; Pitt JJ; Poh S; Pollak A; Porter C; Poston PA; Price RW; Queijo C; Quesada J; Randell E; Ranieri E; Raymond K; Reddic JE; Reuben A; Ricciardi C; Rinaldo P; Rivera JD; Roberts A; Rocha H; Roche G; Greenberg CR; Mellado JME; Juan-Fita MJ; Ruiz C; Ruoppolo M; Rutledge SL; Ryu E; Saban C; Sahai I; García-Blanco MIS; Santiago-Borrero P; Schenone A; Schoos R; Schweitzer B; Scott P; Seashore MR; Seeterlin MA; Sesser DE; Sevier DW; Shone SM; Sinclair G; Skrinska VA; Stanley EL; Strovel ET; Jones ALS; Sunny S; Takats Z; Tanyalcin T; Teofoli F; Thompson JR; Tomashitis K; Domingos MT; Torres J; Torres R; Tortorelli S; Turi S; Turner K; Tzanakos N; Valiente AG; Vallance H; Vela-Amieva M; Vilarinho L; von Döbeln U; Vincent M-F; Vorster BC; Watson MS; Webster D; Weiss S; Wilcken B; Wiley V; Williams SK; Willis SA; Woontner M; Wright K; Yahyaoui R; Yamaguchi S; Yssel M; Zakowicz WM
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2010;33 Suppl 3:S175-S180

Profound biotinidase deficiency: a rare disease among native Swedes.

Ohlsson A; Guthenberg C; Holme E; von Döbeln U
Article: BRITISH JOURNAL OF CANCER. 2010;102(5):796-798

Adenovirus DNA in Guthrie cards from children who develop acute lymphoblastic leukaemia (ALL).

Honkaniemi E; Talekar G; Huang W; Bogdanovic G; Forestier E; von Doblen U; Engvall M; Ornelles DA; Gooding LR; Gustafsson B
Article: NEUROMUSCULAR DISORDERS. 2010;20(3):198-203

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.

Lesko N; Naess K; Wibom R; Solaroli N; Nennesmo I; von Döbeln U; Karlsson A; Larsson N-G
Article: ACTA PAEDIATRICA. 2009;98(6):1010-1013

Increased neonatal thyrotropin in Down syndrome.

Myrelid A; Jonsson B; Guthenberg C; von Döbeln U; Annerén G; Gustafsson J
Article: PLOS ONE. 2009;4(4):e5321

Screening for C3 deficiency in newborns using microarrays.

Janzi M; Sjöberg R; Wan J; Fischler B; von Döbeln U; Isaac L; Nilsson P; Hammarström L
Article: ANNALS OF HUMAN GENETICS. 2009;73(1):61-73

Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis.

Lappalainen T; Hannelius U; Salmela E; von Döbeln U; Lindgren CM; Huoponen K; Savontaus M-L; Kere J; Lahermo P
Article: BMC GENETICS. 2008;9:54

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

Hannelius U; Salmela E; Lappalainen T; Guillot G; Lindgren CM; von Döbeln U; Lahermo P; Kere J
Article: ACTA PAEDIATRICA. 2008;97(8):1108-1112

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

Malm G; Gustafsson B; Berglund G; Lindström M; Naess K; Borgström B; von Döbeln U; Ringdén O
Article: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION. 2008;47(1):98-101

Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.

Nordenström A; Hellerud C; Lindstedt S; Alm J; Fischler B; Nemeth A; von Döbeln U
Article: JOURNAL OF MEDICAL GENETICS. 2008;45(7):473-478

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Mineri R; Rimoldi M; Burlina AB; Koskull S; Perletti C; Heese B; von Döbeln U; Mereghetti P; Di Meo I; Invernizzi F; Zeviani M; Uziel G; Tiranti V
Article: AMINO ACIDS. 2008;35(1):225-231

Serum amino acid profile in patients with acute pancreatitis.

Sandstrom P; Trulsson L; Gasslander T; Sundqvist T; von Dobeln U; Svanvik J
Article: ACTA OPHTHALMOLOGICA. 2008;86(3):329-337

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

Fahnehjelm KT; Holmström G; Ying L; Haglind CB; Nordenström A; Halldin M; Alm J; Nemeth A; von Döbeln U
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2007;30(1):39-46

Increased lipolysis in LCHAD deficiency.

Halldin MU; Forslund A; von Döbeln U; Eklund C; Gustafsson J
Article: TRANSPLANTATION. 2006;81(5):718-725

Allogeneic hematopoietic stem cell transplantation for inherited disorders: experience in a single center.

Ringdén O; Remberger M; Svahn B-M; Barkholt L; Mattsson J; Aschan J; Le Blanc K; Gustafsson B; Hassan Z; Omazic B; Svenberg P; Solders G; von Döbeln U; Winiarski J; Ljungman P; Malm G
Article: ANNALS OF NEUROLOGY. 2005;58(4):544-552

Secondary metabolic effects in complex I deficiency.

Esteitie N; Hinttala R; Wibom R; Nilsson H; Hance N; Naess K; Teär-Fahnehjelm K; von Döbeln U; Majamaa K; Larsson N-G
Article: JOURNAL OF MEDICAL GENETICS. 2005;42(10):e60

Phenylketonuria screening registry as a resource for population genetic studies.

Hannelius U; Lindgren CM; Melén E; Malmberg A; von Dobeln U; Kere J
Article: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH. 2004;48(Pt 7):663-671

Mild intellectual disability in children in Lahore, Pakistan: aetiology and risk factors.

Yaqoob M; Bashir A; Zaman S; Ferngren H; Von Dobeln U; Gustavson K-H
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2004;8(3):121-129

Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.

Kyllerman M; Skjeldal O; Christensen E; Hagberg G; Holme E; Lönnquist T; Skov L; Rotwelt T; von Döbeln U
Article: JOURNAL OF AFFECTIVE DISORDERS. 2003;76(1-3):55-68

Alterations of mitochondrial function and correlations with personality traits in selected major depressive disorder patients.

Gardner A; Johansson A; Wibom R; Nennesmo I; von Döbeln U; Hagenfeldt L; Hällström T
Article: ANALYTICAL BIOCHEMISTRY. 2002;311(2):139-151

Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples.

Wibom R; Hagenfeldt L; von Döbeln U
Article: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 1999;59(4):289-291

Prevalence of the 985A>G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden.

Johansson A; Guthenberg C; Ahlman H; Von Döbeln U; Hagenfeldt L
Article: ACTA PAEDIATRICA. 1999;88(7):729-733

Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty.

Starck L; Björkhem I; Ritzén EM; Nilsson BY; von Döbeln U
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 1998;21(4):409-415

Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain.

Venizelos N; von Döbeln U; Hagenfeldt L
Article: PEDIATRICS. 1998;101(4):E11

Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden.

Thil'en A; Nordenström A; Hagenfeldt L; von Döbeln U; Guthenberg C; Larsson A
Article: ACTA PAEDIATRICA. 1997;86(12):1377-1378

Carbohydrate-deficient transferrin in galactosaemia.

Stibler H; von Döbeln U; Kristiansson B; Guthenberg C
Article: ACTA PAEDIATRICA. 1997;86(5):484-492

Treatment of adrenoleukodystrophy with bone marrow transplantation.

Malm G; Ringdén O; Anvret M; von Döbeln U; Hagenfeldt L; Isberg B; Knuutila S; Nennesmo I; Winiarski J; Marcus C
Article: JOURNAL OF PEDIATRICS. 1997;130(1):67-76

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

Tyni T; Palotie A; Viinikka L; Valanne L; Salo MK; von Döbeln U; Jackson S; Wanders R; Venizelos N; Pihko H
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 1996;144(1-2):91-98

Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1.

Forsgren L; Libelius R; Holmberg M; von Döbeln U; Wibom R; Heijbel J; Sandgren O; Holmgren G
Article: ACTA PAEDIATRICA. 1996;85(7):870-871

Antiepileptic drug treatment during pregnancy and neonatal screening results.

Wide K; Winbladh B; Guthenberg C; von Döbeln U
Article: LAKARTIDNINGEN. 1995;92(37):3331-3334

[B12 deficiency in breast-fed children. Maternal deficiency may cause severe symptoms in children].

Navér L; von Döbeln U; Hagenfeldt L
Article: ACTA PAEDIATRICA. 1995;84(3):267-272

Severe mental retardation in 2 to 24-month-old children in Lahore, Pakistan: a prospective cohort study.

Yaqoob M; Bashir A; Tareen K; Gustavson KH; Nazir R; Jalil F; von Döbeln U; Ferngren H
Visa fler

Alla övriga publikationer

Letter: PEDIATRIC ALLERGY AND IMMUNOLOGY. 2018;29(4):453-456

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

King J; Borte S; Brodszki N; von Döbeln U; Smith CIE; Hammarström L
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2017;139(5):1713-1716.e6

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

Gardulf A; Winiarski J; Thorin M; Heibert Arnlind M; von Döbeln U; Hammarström L
Corrigendum: JOURNAL OF INHERITED METABOLIC DISEASE. 2015;38(2):377

Erratum to: increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.

Haglind CB; Nordenström A; Ask S; von Döbeln U; Gustafsson J; Stenlid MH
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2014;134(1):226-228

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

Borte S; Meeths M; Liebscher I; Krist K; Nordenskjöld M; Hammarström L; von Döbeln U; Henter J-I; Bryceson YT
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2014;133(4):1208-1211

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

Verstegen RHJ; Borte S; Bok LA; van Zwieten PHT; von Döbeln U; Hammarström L; de Vries E
Review: CURRENT OPINION IN HEMATOLOGY. 2013;20(1):48-54

Guidelines for newborn screening of primary immunodeficiency diseases.

Borte S; von Döbeln U; Hammarström L
Published conference paper: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 2009;1787(5):484-490

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.

Naess K; Freyer C; Bruhn H; Wibom R; Malm G; Nennesmo I; von Döbeln U; Larsson N-G
Review: LAKARTIDNINGEN. 2008;105(51-52):3731-3735

[Progress on lysosomal diseases yields hope for cure and improvement].

Malm G; von Döbeln U; Naess K; Ringdén O
Letter: PEDIATRIC BLOOD & CANCER. 2007;49(7):1054-1055

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

Gustafsson B; Karpati F; Nordenstrom A; Söderhäll S; Sander B; Nordvall M; von Döbeln U
Editorial comment: JOURNAL OF INHERITED METABOLIC DISEASE. 2007;30(1):105

Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W.

Ohlsson A; Nasiell J; von Döbeln U
Letter: CLINICAL CHEMISTRY. 2003;49(6 Pt 1):979-981

Extraction of RNA from dried blood on filter papers after long-term storage.

Karlsson H; Guthenberg C; von Döbeln U; Kristenssson K
Corrigendum: ANALYTICAL BIOCHEMISTRY. 2003;317(2):288

Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples (vol 311, pg 139, 2002)

Wibom R; Hagenfeldt L; von Döbeln U
Review: LAKARTIDNINGEN. 2002;99(16):1804-1809

[Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis].

Malm G; Bondeson M-L; von Döbeln U; Månsson J-E
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 1998;78(3):306-307

Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia.

Annerén G; Meurling S; Lilja H; Wallander J; von Döbeln U
Review: LAKARTIDNINGEN. 1995;92(37):3325-3329

[New possibilities for children with Smith-Lemli-Opitz syndrome. A cholesterol synthesis defect discovered].

Starck L; Björkhem I; Lund E; von Döbeln U
Published conference paper: JOURNAL OF INHERITED METABOLIC DISEASE. 1995;18(2):245-248

Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Hagenfeldt L; Venizelos N; von Döbeln U

Anställningar

Anknuten till Forskning, Medicinsk biokemi och biofysik, Karolinska Institutet, 2023-2026

Examina och utbildning

Docent, 1997

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