Ulrika von Döbeln

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2023;188(6):536-546
Neonatal screening for congenital hypothyroidism in Sweden 1980-2013: effects of lowering the thyroid-stimulating hormone threshold
Gunnerbeck A; Lundholm C; von Dobeln U; Zetterstrom RH; Almqvist C; Nordenstrom A
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2021;7(3):59
First Year of TREC-Based National SCID Screening in Sweden
Gongrich C; Ekwall O; Sundin M; Brodszki N; Fasth A; Marits P; Dysting S; Jonsson S; Barbaro M; Wedell A; von Dobeln U; Zetterstrom 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; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom 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 Dobeln 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
Sorensen L; von Dobeln U; Ahlman H; Ohlsson A; Engvall M; Naess K; Backman-Johansson C; Nordqvist Y; Wedell A; Zetterstrom RH
Article: FRONTIERS IN IMMUNOLOGY. 2020;11:455
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies
Dezfouli M; Bergstrom 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; Lopez-Trascasa M; Gonzalez-Granado LI; Allende-Martinez LM; Mizuno Y; Yoshida Y; Friman V; Lundgren A; Aghamohammadi A; Rezaei N; Hernandez-Gonzalez M; von Dobeln U; Truedsson L; Hara T; Nonoyama S; Schwenk JM; Nilsson P; Hammarstrom 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 Dobeln 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 Dobeln 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
Andreasson M; Zetterstroem RH; von Doebeln 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: 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; Hammarstrom L; Zetterstrom RH; von Dobeln U; Cnattingius S; Norman M
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; Zetterstrom RH; King J; Winiarski J; von Dobeln U; Hammarstrom L
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: 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 Dobeln U; Wedell 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; Zetterstrom RH; von Dobeln U; Wredenberg A; Wedell A
Article: JOURNAL OF PROTEOMICS. 2015;126:155-162
Heat differentiated complement factor profiling
Hamsten C; Skattum L; Truedsson L; von Dobeln U; Uhlen M; Schwenk JM; Hammarstrom 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; Nordenstrom A; Ask S; von Dobeln 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; Zetterstrom RH; Wirta V; von Dobeln U; Wedell A
Article: ACTA PAEDIATRICA. 2014;103(12):1258-1263
Epidemiology of lysosomal storage diseases in Sweden
Hult M; Darin N; von Dobeln U; Mansson 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 Dobeln U; Winiarski J; Hammarstrom 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; Martinez Castillo G; Granados Cepeda ML; Rosario Torres-Sepulveda M; Borrajo GJC; Caggana M; Giguere Y; Meyer M; Fukushi M; Devi ARR; Khneisser I; Vilarinho L; von Dobeln 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
Gidlof S; Wedell A; Guthenberg C; von Dobeln U; Nordenstrom 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
Framme JL; Borte S; von Doebeln U; Hammarstrm L; Oskarsdttir 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 Dobeln 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
Gidlof S; Falhammar H; Thilen A; von Dobeln U; Ritzen M; Wedell A; Nordenstrom 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 Dobeln 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 Dobeln U; Hultenby K; Isetun S; Gafvels 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-Hansen E; Ahlman H; Moller C; Vondobeln 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 Dobeln 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 Dobeln U; Fasth A; Wang N; Janzi M; Winiarski J; Sack U; Pan-Hammarstrom Q; Borte M; Hammarstrom 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 Dobeln 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-Hammarstrom Q; von Dobeln U; Nordvall L; Winiarski J; Fasth A; Hammarstrom 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; Oskarsdottir S; von Dobeln U; Hammarstrom 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 Dobeln 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; Ahlman 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; Cariappa R; Carlisle C; Caruso U; Cassanello M; Miren Castilla A; Castineiras Ramos DE; Chakraborty P; Chandrasekar R; Ramos AC; Cheillan D; Chien Y-H; Childs TA; Chrastina P; Sica YC; Cocho de Juan JA; Elena Colandre M; Cornejo Espinoza V; 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; Garcia-Valdecasas Bermejo MS; 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-Gonzalez I; Ingham CA; Ivanova M; Jacox WB; John C; Johnson JP; Jonsson 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; Gibson SKM; 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; Egea Mellado JM; Jess Juan-Fita M; Ruiz C; Ruoppolo M; Rutledge SL; Ryu E; Saban C; Sahai I; Salazar Garcia-Blanco MI; 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 Doebeln 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:S175-S180
Profound biotinidase deficiency: a rare disease among native Swedes
Ohlsson A; Guthenberg C; Holme E; von Dobeln 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 Doebeln 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 Dobeln U; Anneren G; Gustafsson J
Article: PLOS ONE. 2009;4(4):e5321
Screening for C3 Deficiency in Newborns Using Microarrays
Janzi M; Sjoberg R; Wan J; Fischler B; von Dobeln U; Isaac L; Nilsson P; Hammarstrom 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 Dobeln 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 Dobeln 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; Lindstrom M; Naess K; Borgstrom B; von Dobeln U; Ringden 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
Nordenstrom A; Hellerud C; Lindstedt S; Alm J; Fischler B; Nemeth A; von Dobeln 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 Dobeln 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; Holmstrom G; Ying L; Haglind CB; Nordenstrom A; Halldin M; Alm J; Nemeth A; von Dobeln U
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2007;30(1):39-46
Increased lipolysis in LCHAD deficiency
Halldin MU; Forslund A; von Dobeln 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 BM; 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: JOURNAL OF MEDICAL GENETICS. 2005;42(10):e60
Phenylketonuria screening registry as a resource for population genetic studies -: art. no. e60
Hannelius U; Lindgren CM; Melén E; Malmberg A; von Dobeln U; Kere J
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 NG
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 KH
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 β-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
Thilén 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; Ringden O; Anvret M; vonDobeln 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; vonDobeln 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; vonDobeln 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 Dobeln U; Smith CIE; Hammarstrom 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; Arnlind MH; von Dobeln U; Hammarstrom L
Corrigendum: JOURNAL OF INHERITED METABOLIC DISEASE. 2015;38(2):377
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast (vol 38, pg 315, 2015)
Haglind CB; Nordenstrom A; Ask S; von Dobeln 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; Nordenskjold M; Hammarstrom L; von Dobeln 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 Dobeln U; Hammarstrom 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 Dobelin U; Hammarstrom 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 Dobeln 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; Soederhaell S; Sander B; Nordvall M; von Doebeln 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 Dobeln U
Letter: CLINICAL CHEMISTRY. 2003;49(6):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

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

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Docent, 1997

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