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Page 1
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: moslinger d. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
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.
Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.
Beghini M, Pichler M, Tinnefeld FC, Metz M, Möslinger D, Konstantopoulou V, Spenger J, Kautzky-Willer A, Frommlet F, Scherer T, Hufgard-Leitner M. Beghini M, et al. Among authors: moslinger d. Mol Genet Metab Rep. 2024 May 9;39:101087. doi: 10.1016/j.ymgmr.2024.101087. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38766496 Free PMC article.
Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME. Derks B, et al. Among authors: moslinger d. Orphanet J Rare Dis. 2022 Sep 2;17(1):331. doi: 10.1186/s13023-022-02494-4. Orphanet J Rare Dis. 2022. PMID: 36056436 Free PMC article.
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: moslinger d. 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.
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: moslinger d. 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
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.
Bärhold F, Meyer U, Neugebauer AK, Thimm EM, Lier D, Rosenbaum-Fabian S, Och U, Fekete A, Möslinger D, Rohde C, Beblo S, Hochuli M, Bogovic N, Korpel V, Dahl SV, Mayorandan S, Fischer A, Freisinger P, Dokoupil K, Heddrich-Ellerbrok M, Jörg-Streller M, van Teeffelen-Heithoff A, Lahl J, Das AM. Bärhold F, et al. Among authors: moslinger d. Nutrients. 2020 Dec 31;13(1):134. doi: 10.3390/nu13010134. Nutrients. 2020. PMID: 33396520 Free PMC article.
39 results