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

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

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 1-2 (2020)

An amendment to this paper has been published and can be accessed via the original article.

Externí odkaz: https://doaj.org/article/25c50bb60aba4d28af26b83274463fd4

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