Raphaela Muri
Overview
Explore the profile of Raphaela Muri including associated specialties, affiliations and a list of published articles.
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21
Citations
127
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Recent Articles
1.
Trepp R, Muri R, Everts R
Am J Clin Nutr
. 2025 Mar;
121(3):744-745.
PMID: 40044396
No abstract available.
2.
Muri R, Reed M, Maissen-Abgottspon S, Kreis R, Hochuli M, Lanzenberger R, et al.
J Inherit Metab Dis
. 2024 Nov;
48(1):e12823.
PMID: 39604093
Alterations in brain structure are frequently observed in adults with early-treated phenylketonuria (PKU) compared to healthy controls, with cerebral white matter (WM) being particularly affected. The extent to which temporary...
3.
Hauri L, Muri R, Everts R, Trepp R
JIMD Rep
. 2024 Nov;
65(5):354-358.
PMID: 39544686
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...
4.
Maissen-Abgottspon S, Steiner L, Muri R, Wijesinghe D, Jann K, Morishima Y, et al.
Neuroimage Clin
. 2024 Aug;
43:103654.
PMID: 39146838
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...
5.
Muri R, Rummel C, McKinley R, Rebsamen M, Maissen-Abgottspon S, Kreis R, et al.
Brain
. 2024 May;
147(11):3863-3873.
PMID: 38723047
Phenylketonuria is a rare metabolic disease resulting from a deficiency of the enzyme phenylalanine hydroxylase. Recent cross-sectional evidence suggests that early-treated adults with phenylketonuria exhibit alterations in cortical grey matter...
6.
Trepp R, Muri R, Maissen-Abgottspon S, Haynes A, Hochuli M, Everts R
Am J Clin Nutr
. 2024 Apr;
119(4):908-916.
PMID: 38569786
Background: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by increased phenylalanine (Phe) concentrations in the blood and brain. Despite wide agreement on treatment during childhood, recommendations for adults...
7.
Steiner L, Muri R, Wijesinghe D, Jann K, Maissen-Abgottspon S, Radojewski P, et al.
Neuroimage Clin
. 2023 Dec;
41:103550.
PMID: 38091797
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...
8.
Maissen-Abgottspon S, Muri R, Hochuli M, Reismann P, Barta A, Alptekin I, et al.
Orphanet J Rare Dis
. 2023 Sep;
18(1):300.
PMID: 37740225
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...
9.
Muri R, Maissen-Abgottspon S, Reed M, Kreis R, Hoefemann M, Radojewski P, et al.
Brain Commun
. 2023 Jun;
5(3):fcad155.
PMID: 37265600
Despite increasing knowledge about the effects of phenylketonuria on brain structure and function, it is uncertain whether white matter microstructure is affected and if it is linked to patients' metabolic...
10.
Schonenberger K, Reber E, Huwiler V, Durig C, Muri R, Leuenberger M, et al.
Ann Nutr Metab
. 2023 Mar;
79(3):326-333.
PMID: 36934718
Introduction: Home parenteral nutrition (HPN) is a rare but challenging therapy for patients with mostly severe underlying diseases. We aimed to investigate patient-reported health-related quality of life (QOL) of patients...