Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Roman, Trepp"'
Autor:
Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp, Regula Everts
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepa
Externí odkaz:
https://doaj.org/article/9de6a35a1c3e47259c17ab8c1cb6dde5
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
Autor:
Leonie Steiner, Raphaela Muri, Dilmini Wijesinghe, Kay Jann, Stephanie Maissen-Abgottspon, Piotr Radojewski, Katarzyna Pospieszny, Roland Kreis, Claus Kiefer, Michel Hochuli, Roman Trepp, Regula Everts
Publikováno v:
NeuroImage: Clinical, Vol 41, Iss , Pp 103550- (2024)
Background: Phenylketonuria (PKU) represents a congenital metabolic defect that disrupts the process of converting phenylalanine (Phe) into tyrosine. Earlier investigations have revealed diminished cognitive performance and changes in brain structure
Externí odkaz:
https://doaj.org/article/8aa7a988f1b9474a873a7faf71fead11
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
Autor:
Stephanie Abgottspon, Raphaela Muri, Shawn E. Christ, Michel Hochuli, Piotr Radojewski, Roman Trepp, Regula Everts
Publikováno v:
NeuroImage: Clinical, Vol 34, Iss , Pp 102974- (2022)
Background: Phenylketonuria (PKU) is an inborn error of metabolism affecting the conversion of phenylalanine (Phe) into tyrosine. Previous research has found cognitive and functional brain alterations in individuals with PKU even if treated early. Ho
Externí odkaz:
https://doaj.org/article/52adea8091b64f7c931149b3f9fd04ad
Publikováno v:
Swiss Medical Weekly, Vol 150, Iss 0102 (2020)
BACKGROUND: In recent years, several treatment modalities have proved to be effective in the treatment of neuroendocrine tumours (NETs). However, there is currently no consensus on the sequence in which these options are best used. METHODS: In this
Externí odkaz:
https://doaj.org/article/c4ad744128d8480fab4e12583128518d
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
https://doi.org/10.1002/jimd.12561
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
Publikováno v:
Primary and hospital care: médecine interne générale.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7cd53747318820cfd81af8c245a8f823
https://doi.org/10.4414/phc-f.2023.10510
https://doi.org/10.4414/phc-f.2023.10510
Publikováno v:
Primary and Hospital Care: Allgemeine Innere Medizin.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8721bf5ccf35c25231bd99789331db80
https://doi.org/10.4414/phc-d.2023.10510
https://doi.org/10.4414/phc-d.2023.10510