Publications 2025

Grünert SC, Baumgartner MR, Bouchereau J, Burlina A, Clayton PT, de Las Heras J, Dionisi-Vici C, Gemperle-Britschgi C, Haase C, Korman SH, Krämer J, Kühlwein E, Maier EM, Maiorana A, Schiff M, Schmid CU, Tangeraas T, Yamamoto R, Zschocke J, Sass JO (2025)
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications
Genet Med, 27 (9), 101484
DOI 10.1016/j.gim.2025.101484, PubMed 40515583

Kristensen E, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Martikainen MH, Ortigoza-Escobar JD, Tangeraas T, Berland S, Sue CM, Walker JS, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Hikmat O (2025)
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients
J Inherit Metab Dis, 48 (6), e70112
DOI 10.1002/jimd.70112, PubMed 41239934

Lee A, Bliksrud YT, Onali M, Neugebauer J, Eyskens F, Haas D, Mossler K, Enekwe A, Kiec-Wilk B, Diep LM, Bellettato CM, Zernikow B, Scarpa M, Rahman S, Tangeraas T, MetabERN collaboration group on palliative care (2025)
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
J Inherit Metab Dis, 48 (6), e70095
DOI 10.1002/jimd.70095, PubMed 41137497

Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U (2025)
International Survey on Phenylketonuria Newborn Screening
Int J Neonatal Screen, 11 (1)
DOI 10.3390/ijns11010018, PubMed 40136633

Publications 2024

Arntsen V, Jamali A, Sikiric A, Kristensen E, Tangeraas T, Kupliauskiene G, Stefansdottir S, Bindoff LA, Sand T, Brodtkorb E (2024)
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study
Front Neurol, 15, 1355861
DOI 10.3389/fneur.2024.1355861, PubMed 38419708

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA (2024)
Status epilepticus in POLG disease: a large multinational study
J Neurol, 271 (8), 5156-5164
DOI 10.1007/s00415-024-12463-5, PubMed 38822839

Kristensen E, Mathisen L, Berland S, Klingenberg C, Brodtkorb E, Rasmussen M, Tangeraas T, Bliksrud YT, Rahman S, Bindoff LA, Hikmat O (2024)
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Ann Clin Transl Neurol, 11 (7), 1819-1830
DOI 10.1002/acn3.52088, PubMed 38845467

Lund AM, Berland S, Tangeraas T, Christensen M, Confer N, Squires L, Brannsether B (2024)
Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay
Pediatrics, 153 (6)
DOI 10.1542/peds.2023-062548, PubMed 38808412

Yap S, Lamireau D, Feillet F, Ruiz Gomez A, Davison J, Tangeraas T, Giordano V (2024)
Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study
Drugs R D, 24 (1), 69-80
DOI 10.1007/s40268-023-00449-z, PubMed 38198106

Publications 2023

Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N et al. (2023)
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Mol Genet Metab, 139 (3), 107624
DOI 10.1016/j.ymgme.2023.107624, PubMed 37348148

Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N et al. (2023)
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Mol Genet Metab, 139 (4), 107647
DOI 10.1016/j.ymgme.2023.107647, PubMed 37453860

Hogner S, Lundman E, Strand J, Ytre-Arne ME, Tangeraas T, Stray-Pedersen A (2023)
Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS
Int J Neonatal Screen, 9 (4)
DOI 10.3390/ijns9040067, PubMed 38132826

Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
Epilepsy Res, 190, 107099
DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270

Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099]
Epilepsy Res, 198, 107113
DOI 10.1016/j.eplepsyres.2023.107113, PubMed 36906427

Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S et al. (2023)
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
Brain, 146 (7), 3003-3013
DOI 10.1093/brain/awad010, PubMed 36729635

Tangeraas T, Kristensen E, Mørkrid L, Elind E, Bliksrud YT, Eide L (2023)
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
JIMD Rep, 64 (5), 360-366
DOI 10.1002/jmd2.12380, PubMed 37701324

Tangeraas T, Ljungblad UW, Lutvica E, Kristensen E, Rowe AD, Bjørke-Monsen AL, Rootwelt-Revheim T, Sæves I, Pettersen RD (2023)
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
Int J Neonatal Screen, 9 (1)
DOI 10.3390/ijns9010003, PubMed 36648770

Publications 2022

Dello Strologo L, Spada M, Vici CD, Atti MCD, Rheault M, Bjerre AK, Boyer O, Calvo PL, D'Antiga L, Harshman LA, Hörster F, Kölker S, Jahnukainen T, Knops N, Krug P, Krupka K, Lee A, Levtchenko E, Marks SD, Stojanovic J, Martelli L, Mazariegos G, Montini G, Shenoy M, Sidhu S et al. (2022)
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis
Mol Genet Metab, 137 (3), 265-272
DOI 10.1016/j.ymgme.2022.09.010, PubMed 36240580

Ljungblad UW, Astrup H, Mørkrid L, Hager HB, Lindberg M, Eklund EA, Bjørke-Monsen AL, Rootwelt T, Tangeraas T (2022)
Breastfed Infants With Spells, Tremor, or Irritability: Rule Out Vitamin B12 Deficiency
Pediatr Neurol, 131, 4-12
DOI 10.1016/j.pediatrneurol.2022.03.003, PubMed 35439713

Ljungblad UW, Lindberg M, Eklund EA, Saeves I, Bjørke-Monsen AL, Tangeraas T (2022)
Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency
Acta Paediatr, 111 (12), 2315-2321
DOI 10.1111/apa.16530, PubMed 36029294

Ljungblad UW, Lindberg M, Eklund EA, Sæves I, Sagredo C, Bjørke-Monsen AL, Tangeraas T (2022)
A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
Int J Neonatal Screen, 8 (4)
DOI 10.3390/ijns8040066, PubMed 36547383

Ljungblad UW, Paulsen H, Tangeraas T, Evensen KAI (2022)
Reference Material for Hammersmith Infant Neurologic Examination Scores Based on Healthy, Term Infants Age 3-7 Months
J Pediatr, 244, 79-85.e12
DOI 10.1016/j.jpeds.2022.01.032, PubMed 35093317

Ljungblad UW, Paulsen H, Tangeraas T, Evensen KAI (2022)
Reply
J Pediatr, 246, 287-288
DOI 10.1016/j.jpeds.2022.03.048, PubMed 35358585

Ljungblad UW, Tangeraas T, Paulsen H, Lindberg M (2022)
Lower iron stores were associated with suboptimal gross motor scores in infants at 3-7 months
Acta Paediatr, 111 (10), 1941-1949
DOI 10.1111/apa.16469, PubMed 35766116

Ørstavik K, Arntzen KA, Mathisen P, Backe PH, Tangeraas T, Rasmussen M, Kristensen E, Van Ghelue M, Jonsrud C, Bliksrud YT (2022)
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
JIMD Rep, 63 (3), 193-198
DOI 10.1002/jmd2.12276, PubMed 35433169

Publications 2021

Ljungblad UW, Paulsen H, Mørkrid L, Pettersen RD, Hager HB, Lindberg M, Astrup H, Eklund EA, Bjørke-Monsen AL, Rootwelt T, Tangeraas T (2021)
The prevalence and clinical relevance of hyperhomocysteinemia suggesting vitamin B12 deficiency in presumed healthy infants
Eur J Paediatr Neurol, 35, 137-146
DOI 10.1016/j.ejpn.2021.10.008, PubMed 34717141

Stepien KM, Kieć-Wilk B, Lampe C, Tangeraas T, Cefalo G, Belmatoug N, Francisco R, Del Toro M, Wagner L, Lauridsen AG, Sestini S, Weinhold N, Hahn A, Montanari C, Rovelli V, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M (2021)
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
Front Med (Lausanne), 8, 652358
DOI 10.3389/fmed.2021.652358, PubMed 33738294

Publications 2020

Molema F, Martinelli D, Hörster F, Kölker S, Tangeraas T, de Koning B, Dionisi-Vici C, Williams M, additional individual contributors of MetabERN (2020)
Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data
J Inherit Metab Dis, 44 (3), 593-605
DOI 10.1002/jimd.12318, PubMed 32996606

Strand J, Gul KA, Erichsen HC, Lundman E, Berge MC, Trømborg AK, Sørgjerd LK, Ytre-Arne M, Hogner S, Halsne R, Gaup HJ, Osnes LT, Kro GAB, Sorte HS, Mørkrid L, Rowe AD, Tangeraas T, Jørgensen JV, Alme C, Bjørndalen TEH, Rønnestad AE, Lang AM, Rootwelt T, Buechner J, Øverland T et al. (2020)
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
Front Immunol, 11, 1417
DOI 10.3389/fimmu.2020.01417, PubMed 32754152

Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D et al. (2020)
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Int J Neonatal Screen, 6 (3), 51
DOI 10.3390/ijns6030051, PubMed 33123633

Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT (2020)
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Hum Mutat, 42 (2), 135-141
DOI 10.1002/humu.24137, PubMed 33169484

Publications 2018

Thorsteinsdottir H, Diseth TH, Lie A, Tangeraas T, Matthews I, Åsberg A, Bjerre A (2018)
Small effort, high impact: Focus on physical activity improves oxygen uptake (VO_2peak ), quality of life, and mental health after pediatric renal transplantation
Pediatr Transplant, 22 (6), e13242
DOI 10.1111/petr.13242, PubMed 29921004

Publications 2017

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS (2017)
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Mol Genet Metab, 122 (4), 182-188
DOI 10.1016/j.ymgme.2017.10.014, PubMed 29122468

Publications 2016

Bjerre A, Tangeraas T, Heidecke H, Dragun D, Dechend R, Staff AC (2016)
Angiotensin II type 1 receptor antibodies in childhood kidney transplantation
Pediatr Transplant, 20 (5), 627-32
DOI 10.1111/petr.12728, PubMed 27251358

Bremer S, Bliksrud YT, Rootwelt H, Woldseth B, Tangeraas T, Saeves I, Watle SSV (2016)
Identification of a novel BCKDHA deletion causing maple syrup urine disease
Meta Gene, 10, 86-89
DOI 10.1016/j.mgene.2016.02.004

Diez-Fernandez C, Rüfenacht V, Santra S, Lund AM, Santer R, Lindner M, Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek CD, Häberle J (2016)
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Genet Med, 18 (10), 991-1000
DOI 10.1038/gim.2015.201, PubMed 26913920

Publications 2014

Sitek JC, Tangeraas T, Bjerre A, Helsing P (2014)
The prevalence of skin disorders in Norwegian paediatric renal transplant recipients
Acta Derm Venereol, 94 (4), 421-4
DOI 10.2340/00015555-1741, PubMed 24287733

Publications 2012

Bjerre A, Høgåsen K, Grøtta J, Scott H, Tangeraas T, Dörje C (2012)
Rescue of kidney function in a toddler with anti-GBM nephritis
Clin Kidney J, 5 (6), 584-586
DOI 10.1093/ckj/sfs146, PubMed 24422170

Hirth A, Edwards NC, Greve G, Tangeraas T, Gerdts E, Lenes K, Norgård G (2012)
Left ventricular function in children and adults after renal transplantation in childhood
Pediatr Nephrol, 27 (9), 1565-74
DOI 10.1007/s00467-012-2167-z, PubMed 22527532

Publications 2011

Diseth TH, Tangeraas T, Reinfjell T, Bjerre A (2011)
Kidney transplantation in childhood: mental health and quality of life of children and caregivers
Pediatr Nephrol, 26 (10), 1881-92
DOI 10.1007/s00467-011-1887-9, PubMed 21520007

Tangeraas T, Midtvedt K, Cvancarova M, Hirth A, Fredriksen PM, Tonstad S, Isaksen GA, Bjerre A (2011)
Cardiorespiratory fitness in young adults with a history of renal transplantation in childhood
Pediatr Nephrol, 26 (11), 2041-9
DOI 10.1007/s00467-011-1898-6, PubMed 21541798

Publications 2010

Tangeraas T, Midtvedt K, Fredriksen PM, Cvancarova M, Mørkrid L, Bjerre A (2010)
Cardiorespiratory fitness is a marker of cardiovascular health in renal transplanted children
Pediatr Nephrol, 25 (11), 2343-50
DOI 10.1007/s00467-010-1596-9, PubMed 20676694

Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM (2010)
Epigenotype-phenotype correlations in Silver-Russell syndrome
J Med Genet, 47 (11), 760-8
DOI 10.1136/jmg.2010.079111, PubMed 20685669

Publications 2008

Tangeraas T, Bjerre A, Lien B, Kyte A, Monn E, Cvancarova M, Leivestad T, Reisaeter AV (2008)
Long-term outcome of pediatric renal transplantation: the Norwegian experience in three eras 1970-2006
Pediatr Transplant, 12 (7), 762-8
DOI 10.1111/j.1399-3046.2007.00896.x, PubMed 18208441

Publications 2007

Ørstavik KH, Tangeraas T, Molven A, Prescott TE (2007)
Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
Eur J Med Genet, 50 (2), 155-8
DOI 10.1016/j.ejmg.2006.12.003, PubMed 17324647