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Maissen-Abgottspon, Stephanie; Steiner, Leonie; Muri, Raphaela; Wijesinghe, Dilmini; Jann, Kay; Morishima, Yosuke; Hochuli, Michel; Kreis, Roland; Trepp, Roman; Everts, Regula (2024). Effect of a four-week oral Phe administration on neural activation and cerebral blood flow in adults with early-treated phenylketonuria. NeuroImage: Clinical, 43, p. 103654. Elsevier 10.1016/j.nicl.2024.103654
Muri, Raphaela; Rummel, Christian; McKinley, Richard; Rebsamen, Michael; Maissen-Abgottspon, Stephanie; Kreis, Roland; Radojewski, Piotr; Pospieszny, Katarzyna; Hochuli, Michel; Wiest, Roland; Trepp, Roman; Everts, Regula (2024). Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria. (In Press). Brain : a journal of neurology Oxford University Press 10.1093/brain/awae139
Trepp, Roman; Muri, Raphaela; Maissen-Abgottspon, Stephanie; Haynes, Alan; Hochuli, Michel; Everts, Regula (2024). Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial. The American journal of clinical nutrition, 119(4), pp. 908-916. Oxford University Press 10.1016/j.ajcnut.2023.11.007
Steiner, Leonie; Muri, Raphaela; Wijesinghe, Dilmini; Jann, Kay; Maissen-Abgottspon, Stephanie; Radojewski, Piotr; Pospieszny, Katarzyna; Kreis, Roland; Kiefer, Claus; Hochuli, Michel; Trepp, Roman; Everts, Regula (2024). Cerebral blood flow and white matter alterations in adults with phenylketonuria. NeuroImage: Clinical, 41(103550), p. 103550. Elsevier 10.1016/j.nicl.2023.103550
Maissen-Abgottspon, Stephanie; Muri, Raphaela; Hochuli, Michel; Reismann, Péter; Barta, András Gellért; Alptekin, Ismail Mucahit; Hermida-Ameijeiras, Álvaro; Burlina, Alessandro P; Burlina, Alberto B; Cazzorla, Chiara; Carretta, Jessica; Trepp, Roman; Everts, Regula (2023). Health-related quality of life in a european sample of adults with early-treated classical PKU. Orphanet journal of rare diseases, 18(1), p. 300. BioMed Central 10.1186/s13023-023-02917-w
Muri, Raphaela; Maissen-Abgottspon, Stephanie; Reed, Murray Bruce; Kreis, Roland; Hoefemann, Maike; Radojewski, Piotr; Pospieszny, Katarzyna; Hochuli, Michel; Wiest, Roland; Lanzenberger, Rupert; Trepp, Roman; Everts, Regula (2023). Compromised white matter is related to lower cognitive performance in adults with phenylketonuria. Brain Communications, 5(3), pp. 1-13. Oxford University Press 10.1093/braincomms/fcad155
Muri, Raphaela; Maissen-Abgottsponn, Stephanie; Rummel, Christian; Rebsamen, Michael; Wiest, Roland; Hochuli, Michel; Jansma, Bernadette M; Trepp, Roman; Everts, Regula (2022). Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria. Journal of inherited metabolic disease, 45(6), pp. 1082-1093. Wiley 10.1002/jimd.12561
Geidl-Flueck, Bettina; Hochuli, Michel; Spinas, Giatgen A; Gerber, Philipp A (2022). Do Sugar-Sweetened Beverages Increase Fasting FGF21 Irrespective of the Type of Added Sugar? A Secondary Exploratory Analysis of a Randomized Controlled Trial. Nutrients, 14(19) MDPI 10.3390/nu14194169
Monteillet, Laure; Labrune, Philippe; Hochuli, Michel; Do Cao, Jeremy; Tortereau, Antonin; Miliano, Alexane Cannella; Ardon-Zitoun, Carine; Duchampt, Adeline; Silva, Marine; Verzieux, Vincent; Mithieux, Gilles; Rajas, Fabienne (2022). Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy. Human molecular genetics, 31(6), pp. 914-928. Oxford University Press 10.1093/hmg/ddab297
Mathis, Tamara; Poms, Martin; Köfeler, Harald; Gautschi, Matthias; Plecko, Barbara; Baumgartner, Matthias R; Hochuli, Michel (2022). Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I. Journal of inherited metabolic disease, 45(2), pp. 235-247. Wiley 10.1002/jimd.12451
Abgottspon, Stephanie; Muri, Raphaela; Christ, Shawn E; Hochuli, Michel; Radojewski, Piotr; Trepp, Roman; Everts, Regula (2022). Neural correlates of working memory and its association with metabolic parameters in early-treated adults with phenylketonuria. NeuroImage: Clinical, 34, p. 102974. Elsevier 10.1016/j.nicl.2022.102974
Geidl-Flueck, Bettina; Hochuli, Michel; Németh, Ágota; Eberl, Anita; Derron, Nina; Köfeler, Harald C; Tappy, Luc; Berneis, Kaspar; Spinas, Giatgen A; Gerber, Philipp A (2021). Fructose- and sucrose- but not glucose-sweetened beverages promote hepatic de novo lipogenesis: A randomized controlled trial. Journal of hepatology, 75(1), pp. 46-54. Elsevier 10.1016/j.jhep.2021.02.027
Forny, Patrick; Hörster, Friederike; Ballhausen, Diana; Chakrapani, Anupam; Chapman, Kimberly A; Dionisi-Vici, Carlo; Dixon, Marjorie; Grünert, Sarah C; Grunewald, Stephanie; Haliloglu, Goknur; Hochuli, Michel; Honzik, Tomas; Karall, Daniela; Martinelli, Diego; Molema, Femke; Sass, Jörn Oliver; Scholl-Bürgi, Sabine; Tal, Galit; Williams, Monique; Huemer, Martina; ... (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of inherited metabolic disease, 44(3), pp. 566-592. Wiley 10.1002/jimd.12370
Trepp, Roman; Muri, Raphaela; Abgottspon, Stephanie; Bosanska, Lenka; Hochuli, Michel; Slotboom, Johannes; Rummel, Christian; Kreis, Roland; Everts, Regula (2020). Correction to: Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial. Trials, 21(1), p. 561. BioMed Central 10.1186/s13063-020-04489-7
Trepp, Roman; Muri, Raphaela; Abgottspon, Stephanie; Bosanska, Lenka; Hochuli, Michel; Slotboom, Johannes; Rummel, Christian; Kreis, Roland; Everts, Regula (2020). Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial. Trials, 21(1), p. 178. BioMed Central 10.1186/s13063-019-4022-z
Kaiser, Nathalie; Gautschi, Matthias; Bosanska, Lenka; Meienberg, Fabian; Baumgartner, Matthias R; Spinas, Giatgen A; Hochuli, Michel (2019). Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry. Molecular genetics and metabolism, 126(4), pp. 355-361. Elsevier 10.1016/j.ymgme.2019.02.008
Hornemann, Thorsten; Alecu, Irina; Hagenbuch, Niels; Zhakupova, Assem; Cremonesi, Alessio; Gautschi, Matthias; Jung, Hans H.; Meienberg, Fabian; Bilz, Stefan; Christ, Emanuel; Baumgartner, Matthias R.; Hochuli, Michel (2018). Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control. Molecular genetics and metabolism, 125(1-2), pp. 73-78. Elsevier 10.1016/j.ymgme.2018.07.003
Hochuli, Michel; Christ, Emanuel; Meienberg, Fabian; Lehmann, Roger; Krützfeldt, Jan; Baumgartner, Matthias R (2015). Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. Journal of inherited metabolic disease, 38(6), pp. 1093-1098. Springer 10.1007/s10545-015-9864-2
Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria; de Baulny, Hélène; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie; Cocho de Juan, José; Couce Pico, Maria; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; ... (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9(1), p. 107. BioMed Central 10.1186/s13023-014-0107-7
Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; ... (2013). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of inherited metabolic disease, 37(1), pp. 21-30. Lancaster, UK: Springer 10.1007/s10545-013-9624-0
