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Year Number of Results
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2023 8
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Ljungblad UW, Paulsen H, Tangeraas T, Evensen KAI. Ljungblad UW, et al. Among authors: tangeraas t. J Pediatr. 2022 Jul;246:287-288. doi: 10.1016/j.jpeds.2022.03.048. Epub 2022 Mar 28. J Pediatr. 2022. PMID: 35358585 No abstract available.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
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, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A. Tangeraas T, et al. Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. Brain. 2023. PMID: 36729635
International Survey on Phenylketonuria Newborn Screening.
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. Trampuž D, et al. Among authors: tangeraas t. Int J Neonatal Screen. 2025 Feb 26;11(1):18. doi: 10.3390/ijns11010018. Int J Neonatal Screen. 2025. PMID: 40136633 Free PMC article.
Status epilepticus in POLG disease: a large multinational study.
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. Hikmat O, et al. Among authors: tangeraas t. J Neurol. 2024 Aug;271(8):5156-5164. doi: 10.1007/s00415-024-12463-5. Epub 2024 Jun 1. J Neurol. 2024. PMID: 38822839 Free PMC article.
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.
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. Grünert SC, et al. Among authors: tangeraas t. Genet Med. 2025 Sep;27(9):101484. doi: 10.1016/j.gim.2025.101484. Epub 2025 Jun 11. Genet Med. 2025. PMID: 40515583 Free article.
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.
Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM; E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management. Stolwijk NN, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12815. doi: 10.1002/jimd.12815. Epub 2024 Dec 3. J Inherit Metab Dis. 2025. PMID: 39625308 Free PMC article.
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.
Tangeraas T, Ljungblad UW, Lutvica E, Kristensen E, Rowe AD, Bjørke-Monsen AL, Rootwelt-Revheim T, Sæves I, Pettersen RD. Tangeraas T, et al. Int J Neonatal Screen. 2023 Jan 5;9(1):3. doi: 10.3390/ijns9010003. Int J Neonatal Screen. 2023. PMID: 36648770 Free PMC article.
Epigenotype-phenotype correlations in Silver-Russell syndrome.
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. Wakeling EL, et al. Among authors: tangeraas t. J Med Genet. 2010 Nov;47(11):760-8. doi: 10.1136/jmg.2010.079111. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685669 Free PMC article.
45 results