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Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.
Spenger J, Maier EM, Wechselberger K, Bauder F, Kocher M, Sperl W, Preisel M, Schiergens KA, Konstantopoulou V, Röschinger W, Häberle J, Schmitt-Mechelke T, Wortmann SB, Fingerhut R. Spenger J, et al. Int J Neonatal Screen. 2021 Dec 31;8(1):2. doi: 10.3390/ijns8010002. Int J Neonatal Screen. 2021. PMID: 35076458 Free PMC article.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S. Wortmann SB, et al. Among authors: spenger j. Am J Hum Genet. 2020 Feb 6;106(2):256-263. doi: 10.1016/j.ajhg.2020.01.005. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004446 Free PMC article.
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
Rozmarič T, Mitulović G, Konstantopoulou V, Goeschl B, Huemer M, Plecko B, Spenger J, Wortmann SB, Scholl-Bürgi S, Karall D, Greber-Platzer S, Zeyda M. Rozmarič T, et al. Among authors: spenger j. Diagnostics (Basel). 2020 Aug 24;10(9):626. doi: 10.3390/diagnostics10090626. Diagnostics (Basel). 2020. PMID: 32846920 Free PMC article.
Project "Backtoclinic I": An overview on the state of care of adult PKU patients in Austria.
Beghini M, Resch FJ, Möslinger D, Konstantopoulou V, Karall D, Scholl-Bürgi S, Brunner-Krainz M, Plecko B, Spenger J, Kautzky-Willer A, Scherer T, Hufgard-Leitner M. Beghini M, et al. Among authors: spenger j. Mol Genet Metab. 2021 Jul;133(3):257-260. doi: 10.1016/j.ymgme.2021.05.003. Epub 2021 May 11. Mol Genet Metab. 2021. PMID: 34083143
Congenital disorders of glycosylation with defective fucosylation.
Hüllen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J, Feichtinger RG, Schaefers J, Frenz S, Kotlarz D, Momen T, Khoshnevisan R, Riedhammer KM, Santer R, Herget T, Rennings A, Lefeber DJ, Mayr JA, Thiel C, Wortmann SB. Hüllen A, et al. Among authors: spenger j. J Inherit Metab Dis. 2021 Nov;44(6):1441-1452. doi: 10.1002/jimd.12426. Epub 2021 Sep 15. J Inherit Metab Dis. 2021. PMID: 34389986
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
Ramoser G, Caferri F, Radlinger B, Brunner-Krainz M, Herbst S, Huemer M, Hufgard-Leitner M, Kircher SG, Konstantopoulou V, Löscher W, Möslinger D, Plecko B, Spenger J, Stulnig T, Sunder-Plassmann G, Wortmann S, Scholl-Bürgi S, Karall D; Austrian IMD Registry Group. Ramoser G, et al. Among authors: spenger j. J Inherit Metab Dis. 2022 Mar;45(2):144-156. doi: 10.1002/jimd.12442. Epub 2021 Oct 17. J Inherit Metab Dis. 2022. PMID: 34595757 Free PMC article.
16 results