Rolf Zetterström

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Articles

Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY (EJE). 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: JOURNAL OF PEDIATRICS. 2023;256:38-43.e3
Cost-Effectiveness of Newborn Screening for Phenylketonuria and Congenital Hypothyroidism
Appelberg K; Sorensen L; Zetterstrom RH; Henriksson M; Wedell A; Levin L-A
Article: CLINICAL IMMUNOLOGY. 2023;249:109277
Normal neonatal TREC and KREC levels in early onset juvenile idiopathic arthritis
Gudmundsdottir JA; Thorgeirsdottir S; Lundback V; Gongrich C; Framme JL; Kindgren E; Rydenman K; Ludviksson BR; Bjarnadottir H; Runarsdottir S; Nilsson S; Zetterstrom RH; Ekwall O; Lindgren S
Article: FRONTIERS IN IMMUNOLOGY. 2023;14:1257581
Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels
Ang C; Zetterstrom RH; Ramme K; Axelsen E; Marits P; Sundin M
Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2022;42(3):618-633
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs
Framme JL; Lundqvist C; Lundell A-C; van Schouwenburg PA; Lemarquis AL; Thorn K; Lindgren S; Gudmundsdottir J; Lundberg V; Degerman S; Zetterstrom RH; Borte S; Hammarstrom L; Telemo E; Hultdin M; van der Burg M; Fasth A; Oskarsdottir S; Ekwall O
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2022;149(4):1428-1436
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency
Blom M; Zetterstrom RH; Stray-Pedersen A; Gilmour K; Gennery AR; Puck JM; van der Burg M
Article: JIMD REPORTS. 2022;63(2):181-190
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
Olsson D; Barbaro M; Haglind C; Halldin M; Lajic S; Tucci S; Zetterström RH; Nordenström 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: MEDECINE/SCIENCES. 2021;37(5):441-456
Neonatal screening in Europe revisited: An ISNS-perspective on the current state and developments since 2010
Loeber JG; Platis D; Zetterstrom RH; Schielen PJCI
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2021;7(2):23
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools
Rowe AD; Stoway SD; Ahlman H; Arora V; Caggana M; Fornari A; Hagar A; Hall PL; Marquardt GC; Miller BJ; Nixon C; Norgan AP; Orsini JJ; Pettersen RD; Piazza AL; Schubauer NR; Smith AC; Tang H; Tavakoli NP; Wei S; Zetterstrom RH; Currier RJ; Morkrid L; Rinaldo P
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: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2021;7(1):15
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Loeber JG; Platis D; Zetterstroem RH; Almashanu S; Boemer F; Bonham JR; Borde P; Brincat I; Cheillan D; Dekkers E; Dimitrov D; Fingerhut R; Franzson L; Groselj U; Hougaard D; Knapkova M; Kocova M; Kotori V; Kozich V; Kremezna A; Kurkijaervi R; La Marca G; Mikelsaar R; Milenkovic T; Mitkin V; Moldovanu F; Ceglarek U; O'Grady L; Oltarzewski M; Pettersen RD; Ramadza D; Salimbayeva D; Samardzic M; Shamsiddinova M; Songailiene J; Szatmari I; Tabatadze N; Tezel B; Toromanovic A; Tovmasyan I; Usurelu N; Vevere P; Vilarinho L; Vogazianos M; Yahyaoui R; Zeyda M; Schielen PCJI
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(1):67-78
Regulatory landscape of providing information on newborn screening to parents across Europe
Frankova V; Driscoll RO; Jansen ME; Loeber JG; Kozich V; Bonham J; Borde P; Brincat I; Cheillan D; Dekkers E; Fingerhut R; Kus IB; Girginoudis P; Groselj U; Hougaard D; Knapkova M; la Marca G; Malniece I; Nanu MI; Nennstiel U; Olkhovych N; Oltarzewski M; Pettersen RD; Racz G; Reinson K; Salimbayeva D; Songailiene J; Vilarinho L; Vogazianos M; Zetterstrom RH; Zeyda M
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2020;6(3):51
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Tangeraas T; Saeves I; Klingenberg C; Jorgensen J; Kristensen E; Gunnarsdottir G; Hansen EV; Strand J; Lundman E; Ferdinandusse S; Salvador CL; Woldseth B; Bliksrud YT; Sagredo C; Olsen OE; Berge MC; Tromborg AK; Ziegler A; Zhang JH; Sorgjerd LK; Ytre-Arne M; Hogner S; Lovoll SM; Klovstad Olavsen MR; Navarrete D; Gaup HJ; Lilje R; Zetterstrom RH; Stray-Pedersen A; Rootwelt T; Rinaldo P; Rowe AD; Pettersen RD
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2020;6(3):E71-71
Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Zetterstrom RH; Karlsson L; Falhammar H; Lajic S; Nordenstrom A
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: 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: JOURNAL OF INHERITED METABOLIC DISEASE. 2019;42(1):128-139
Newborn screening for homocystinurias: Recent recommendations versus current practice
Keller R; Chrastina P; Pavlikova M; Gouveia S; Ribes A; Koelker S; Blom HJ; Baumgartner MR; Bartl J; Dionisi-Vici C; Gleich F; Morris AA; Kozich V; Huemer M; Baric I; Ben-Omran T; Blasco-Alonso J; Bueno Delgado MA; Carducci C; Cassanello M; Cerone R; Luz Couce M; Crushell E; Delgado Pecellin C; Dulin E; Espada M; Ferino G; Fingerhut R; Garcia Jimenez I; Gonzalez Gallego I; Gonzalez-Irazabal Y; Gramer G; Juan Fita MJ; Karg E; Klein J; Konstantopoulou V; la Marca G; Teles EL; Leuzzi V; Lilliu F; Maria Lopez R; Lund AM; Mayne P; Meavilla S; Moat SJ; Okun JG; Pasquini E; Carmen Pedron-Giner C; Racz GZ; Ruiz Gomez MA; Vilarinho L; Yahyaoui R; Tansek MZ; Zetterstrom RH; Zeyda M
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2018;4(1):8
Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia
Bonham JR; Carling RS; Lindner M; Franzson L; Zetterstrom R; Boemer F; Cerone R; Eyskens F; Vilarinho L; Hougaard DM; Schielen PCJI
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; Zetterstrom RH; King J; Winiarski J; von Dobeln U; Hammarstrom 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; Hammarstrom L; Zetterstrom RH; von Dobeln U; Cnattingius S; Norman M
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; Zetterstrom RH; von Dobeln U; Wredenberg A; Wedell A
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: EUROPEAN JOURNAL OF NEUROSCIENCE. 2003;17(11):2418-2424
Decreased ethanol preference and wheel running in Nurr1-deficient mice
Werme M; Hermanson E; Carmine A; Buervenich S; Zetterström RH; Thorén P; Ögren SO; Olson L; Perlmann T; Brené S
Article: MOLECULAR AND CELLULAR NEUROSCIENCE. 2001;18(6):649-663
Orphan nuclear receptor Nurr1 is essential for Ret expression in midbrain dopamine neurons and in the brain stem
Wallén Å; Castro DS; Zetterström RH; Karlén M; Olson L; Ericson J; Perlmann T
Article: SCIENCE. 2000;290(5499):2140-2144
Docosahexaenoic acid, a ligand for the retinoid X receptor in mouse brain
de Urquiza AM; Liu SY; Sjöberg M; Zetterström RH; Griffiths W; Sjovall J; Perlmann T
Article: EXPERIMENTAL CELL RESEARCH. 1999;253(2):737-746
Fate of mesencephalic AHD2-expressing dopamine progenitor cells in Nurr1 mutant mice
Wallén Å; Zetterström RH; Solomin L; Arvidsson M; Olson L; Perlmann T
Article: ENDOCRINOLOGY. 1999;140(8):3755-3761
Constitutive expression of interleukin-1α messenger ribonucleic acid in rat sertoli cells is dependent upon interaction with germ cells
Jonsson CK; Zetterström RH; Holst M; Parvinen M; Söder O
Article: EUROPEAN JOURNAL OF NEUROSCIENCE. 1999;11(2):407-416
Role of retinoids in the CNS:: differential expression of retinoid binding proteins and receptors and evidence for presence of retinoic acid
Zetterström RH; Lindqvist E; de Urquiza AM; Tomac A; Eriksson U; Perlmann T; Olson L
Article: NATURE. 1998;395(6700):398-402
Retinoid-X receptor signalling in the developing spinal cord
Solomin L; Johansson CB; Zetterström RH; Bissonnette RP; Heyman RA; Olson L; Lendahl U; Frisén J; Perlmann T
Article: CELL. 1998;92(1):73-82
An orphan nuclear receptor activated by pregnanes defines a novel steroid signaling pathway
Kliewer SA; Moore JT; Wade L; Staudinger JL; Watson MA; Jones SA; McKee DD; Oliver BB; Willson TM; Zetterström RH; Perlmann T; Lehmann JM
Article: SCIENCE. 1997;276(5310):248-250
Dopamine neuron agenesis in Nurr1-deficient mice
Zetterstrom RH; Solomin L; Jansson L; Hoffer BJ; Olson L; Perlmann T
Article: MOLECULAR ENDOCRINOLOGY. 1996;10(12):1656-1666
Retinoid X receptor heterodimerization and developmental expression distinguish the orphan nuclear receptors NGFI-B, Nurr1, and Nor1
Zetterstrom RH; Solomin L; Mitsiadis T; Olson L; Perlmann T
Article: BRAIN RESEARCH. 1996;41(1-2):111-120
Cellular expression of the immediate early transcription factors Nurr1 and NGFI-B suggests a gene regulatory role in several brain regions including the nigrostriatal dopamine system
Zetterstrom RH; Williams R; Perlmann T; Olson L
Article: DEVELOPMENTAL BRAIN RESEARCH. 1995;84(1):67-76
IGF-1 INFLUENCES OLFACTORY-BULB MATURATION - EVIDENCE FROM ANTI-IGF-1 ANTIBODY TREATMENT OF DEVELOPING GRAFTS IN OCULO
GIACOBINI MMJ; ZETTERSTROM RH; YOUNG D; HOFFER B; SARA V; OLSON L
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Review: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2023;9(2):21
Newborn Screening in a Pandemic-Lessons Learned
Mlinaric M; Bonham JR; Kozich V; Koelker S; Majek O; Battelino T; Torkar AD; Koracin V; Perko D; Remec ZI; Lampret BR; Scarpa M; Schielen PCJI; Zetterstrom RH; Groselj U
Review: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2022;8(2):31
Towards Achieving Equity and Innovation in Newborn Screening across Europe
Sikonja J; Groselj U; Scarpa M; la Marca G; Cheillan D; Koelker S; Zetterstrom RH; Kozich V; Le Cam Y; Gumus G; Bottarelli V; van der Burg M; Dekkers E; Battelino T; Prevot J; Schielen PCJI; Bonham JR
Editorial comment: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2021;110:16-17
Y 'Curiosity and restlessness drove him not only in his work, but also privately'
Zetterstrom J; Zetterstrom R
Review: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2020;6(3):68
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients
Lajic S; Karlsson L; Zetterstrom RH; Falhammar H; Nordenstrom A
Published conference paper: BRAIN RESEARCH REVIEWS. 1998;26(2-3):302-305
On CNS repair and protection strategies:: novel approaches with implications for spinal cord injury and Parkinson's disease
Olson L; Cheng H; Zetterström RH; Solomin L; Jansson L; Giménez-Llort L; Hoffer BJ; Perlmann T
Thesis / dissertation: 1998
On retinoid receptors, Nurr1 and related transcription factors in the CNS
Zetterström, Rolf H

Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2023-2026

Degrees and Education

University Medical Degree, Karolinska Institutet, 2000

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