Effect of a four-week oral Phe administration on neural activation and cerebral blood flow in adults with early-treated phenylketonuria

Autor: Stephanie Maissen-Abgottspon, Leonie Steiner, Raphaela Muri, Dilmini Wijesinghe, Kay Jann, Yosuke Morishima, Michel Hochuli, Roland Kreis, Roman Trepp, Regula Everts

Publikováno v: NeuroImage: Clinical, Vol 43, Iss , Pp 103654- (2024)

Background: Phenylketonuria (PKU) is a rare inborn error of metabolism characterized by impaired catabolism of the amino acid phenylalanine (Phe) into tyrosine. Cross-sectional studies suggest slight alterations in cognitive performance and neural ac

Externí odkaz: https://doaj.org/article/ed4324b24af84d519af14014a0ecb908

Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial

Autor: Roman Trepp, Raphaela Muri, Stephanie Abgottspon, Lenka Bosanska, Michel Hochuli, Johannes Slotboom, Christian Rummel, Roland Kreis, Regula Everts

Publikováno v: Trials, Vol 21, Iss 1, Pp 1-11 (2020)

Abstract Background The population of adult patients with early-treated phenylketonuria (PKU) following newborn screening is growing substantially. The ideal target range of blood phenylalanine (Phe) levels in adults outside pregnancy is a matter of

Externí odkaz: https://doaj.org/article/115cb05b825b4877afd5fbdb6481af0d

Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria

Autor: Raphaela Muri, Stephanie Maissen‐Abgottspon, Christian Rummel, Michael Rebsamen, Roland Wiest, Michel Hochuli, Bernadette M. Jansma, Roman Trepp, Regula Everts

Publikováno v: Journal of Inherited Metabolic Disease, 45(6), 1082-1093. Wiley

Despite good control of phenylalanine (Phe) levels during childhood and adolescence, adults with phenylketonuria (PKU) often show abnormalities in the white matter of the brain, which have been associated with poorer cognitive performance. However, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55925a0ad85f32fc29f32b6edc0bc8e9
https://doi.org/10.1002/jimd.12561

Do Sugar-Sweetened Beverages Increase Fasting FGF21 Irrespective of the Type of Added Sugar? A Secondary Exploratory Analysis of a Randomized Controlled Trial

Autor: Bettina Geidl-Flueck, Michel Hochuli, Giatgen A. Spinas, Philipp A. Gerber

Publikováno v: Nutrients; Volume 14; Issue 19; Pages: 4169
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) Molecular Diversity Preservation International MDPI 10.3390/nu14194169

Human fibroblast growth factor 21 (FGF21) is a multifaceted metabolic regulator considered to control sugar intake and to exert beneficial effects on glucose and lipid metabolism. Elevated serum FGF21 levels are associated with metabolic syndrome, su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2379a486fa7be740f9a1275e1b61fd3c

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Autor: Tomas Honzik, Diana Ballhausen, Martina Huemer, Kimberly A. Chapman, Matthias R. Baumgartner, Carlo Dionisi-Vici, Stephanie Grunewald, Sarah C. Grünert, Sabine Scholl-Bürgi, Anupam Chakrapani, Daniela Karall, Monique Williams, Jörn Oliver Sass, Patrick Forny, Goknur Haliloglu, Femke Molema, Marjorie Dixon, Galit Tal, Friederike Hörster, Michel Hochuli, Diego Martinelli

Publikováno v: Journal of Inherited Metabolic Disease, 44(3), 566-592. Springer Netherlands
Journal of Inherited Metabolic Disease
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
J Inherit MetabDis. 2021;44:566–592

Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b100eb452f8373fdf2592b78e83c3d
https://pure.eur.nl/en/publications/92b20fb2-2f66-48af-b853-afabe47afb0f