Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Raphaela Muri"'
Publikováno v:
JIMD Reports, Vol 65, Iss 5, Pp 354-358 (2024)
Abstract This study aimed to analyze whether early‐treated adults with phenylketonuria (PKU) can subjectively sense high phenylalanine (Phe) concentrations and whether a possible impact of Phe on objective measures of cognitive performance and mood
Externí odkaz:
https://doaj.org/article/0c33cf34e24b49809102609c8e15403a
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:
Richard McKinley, Rik Wepfer, Fabian Aschwanden, Lorenz Grunder, Raphaela Muri, Christian Rummel, Rajeev Verma, Christian Weisstanner, Mauricio Reyes, Anke Salmen, Andrew Chan, Franca Wagner, Roland Wiest
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Segmentation of white matter lesions and deep grey matter structures is an important task in the quantification of magnetic resonance imaging in multiple sclerosis. In this paper we explore segmentation solutions based on convolutional neura
Externí odkaz:
https://doaj.org/article/2d91ebaae8b1419a8505044be986094e
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
Autor:
Richard McKinley, Rik Wepfer, Lorenz Grunder, Fabian Aschwanden, Tim Fischer, Christoph Friedli, Raphaela Muri, Christian Rummel, Rajeev Verma, Christian Weisstanner, Benedikt Wiestler, Christoph Berger, Paul Eichinger, Mark Muhlau, Mauricio Reyes, Anke Salmen, Andrew Chan, Roland Wiest, Franca Wagner
Publikováno v:
NeuroImage: Clinical, Vol 25, Iss , Pp - (2020)
The detection of new or enlarged white-matter lesions is a vital task in the monitoring of patients undergoing disease-modifying treatment for multiple sclerosis. However, the definition of ‘new or enlarged’ is not fixed, and it is known that les
Externí odkaz:
https://doaj.org/article/035a787c92824863b1db963c3ded5beb
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
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