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Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data.
Molema F, Martinelli D, Hörster F, Kölker S, Tangeraas T, de Koning B, Dionisi-Vici C, Williams M; additional individual contributors of MetabERN. Molema F, et al. Among authors: tangeraas t. J Inherit Metab Dis. 2021 May;44(3):593-605. doi: 10.1002/jimd.12318. Epub 2020 Oct 29. J Inherit Metab Dis. 2021. PMID: 32996606 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.
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey.
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. Stepien KM, et al. Among authors: tangeraas t. Front Med (Lausanne). 2021 Feb 25;8:652358. doi: 10.3389/fmed.2021.652358. eCollection 2021. Front Med (Lausanne). 2021. PMID: 33738294 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.
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
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. Diez-Fernandez C, et al. Among authors: tangeraas t. Genet Med. 2016 Oct;18(10):991-1000. doi: 10.1038/gim.2015.201. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913920 Free article.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
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. Wintjes LTM, et al. Among authors: tangeraas t. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. Hum Mutat. 2021. PMID: 33169484 Free PMC article.
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