| Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision P Forny, F Hörster, D Ballhausen, A Chakrapani, KA Chapman, ... Journal of Inherited Metabolic Disease 44 (3), 566-592, 2021 | 158 | 2021 |
| Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency A Luciani, A Schumann, M Berquez, Z Chen, D Nieri, M Failli, H Debaix, ... Nature communications 11 (1), 970, 2020 | 88 | 2020 |
| Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency P Forny, DS Froese, T Suormala, WW Yue, MR Baumgartner Human mutation 35 (12), 1449-1458, 2014 | 60 | 2014 |
| Molecular Genetic Characterization of 151 Mut‐Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT P Forny, AS Schnellmann, C Buerer, S Lutz, B Fowler, DS Froese, ... Human mutation 37 (8), 745-754, 2016 | 45 | 2016 |
| Novel mouse models of methylmalonic aciduria recapitulate phenotypic traits with a genetic dosage effect P Forny, A Schumann, M Mustedanagic, D Mathis, MA Wulf, N Nägele, ... Journal of Biological Chemistry 291 (39), 20563-20573, 2016 | 41 | 2016 |
| Effects of hypericin and a chlorin based photosensitizer alone or in combination in squamous cell carcinoma cells in the dark EB Gyenge, P Forny, D Lüscher, A Laass, H Walt, C Maake Photodiagnosis and photodynamic therapy 9 (4), 321-331, 2012 | 39 | 2012 |
| Liver neoplasms in methylmalonic aciduria: An emerging complication P Forny, M Hochuli, Y Rahman, M Deheragoda, A Weber, J Baruteau, ... Journal of inherited metabolic disease 42 (5), 793-802, 2019 | 33 | 2019 |
| Photodynamic Mechanisms induced by a Combination of Hypericin and a Chlorin Based‐Photosensitizer in Head and Neck Squamous Cell Carcinoma Cells EB Gyenge, D Lüscher, P Forny, M Antoniol, G Geisberger, H Walt, ... Photochemistry and Photobiology 89 (1), 150-162, 2013 | 32 | 2013 |
| Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis V Kožich, J Sokolová, AAM Morris, M Pavlíková, F Gleich, S Kölker, J Krijt, ... Journal of Inherited Metabolic Disease 44 (3), 677-692, 2021 | 28 | 2021 |
| Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria P Wongkittichote, G Cunningham, ML Summar, E Pumbo, P Forny, ... Molecular genetics and metabolism 128 (4), 444-451, 2019 | 28 | 2019 |
| Diagnosing mitochondrial disorders remains challenging in the omics era P Forny, E Footitt, JE Davison, A Lam, CE Woodward, S Batzios, S Bhate, ... Neurology: Genetics 7 (3), e597, 2021 | 19 | 2021 |
| Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency P Forny, X Bonilla, D Lamparter, W Shao, T Plessl, C Frei, A Bingisser, ... Nature Metabolism 5 (1), 80-95, 2023 | 12 | 2023 |
| Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria P Forny, T Plessl, C Frei, C Bürer, DS Froese, MR Baumgartner Human Genetics, 1-15, 2022 | 10 | 2022 |
| Mitochondrial proteome research: the road ahead ZN Baker, P Forny, DJ Pagliarini Nature Reviews Molecular Cell Biology 25 (1), 65-82, 2024 | 7 | 2024 |
| Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism F Bösch, MA Landolt, MR Baumgartner, S Fernandez, P Forny, ... Molecular Genetics and Metabolism Reports 31, 100876, 2022 | 7 | 2022 |
| New in vitro model derived from brain-specific Mut-/-mice confirms cerebral ammonium accumulation in methylmalonic aciduria N Remacle, P Forny, HP Cudré-Cung, M Gonzalez-Melo, ... Molecular genetics and metabolism 124 (4), 266-277, 2018 | 7 | 2018 |
| Fast and deep Phosphoproteome analysis with the orbitrap astral mass spectrometer NM Lancaster, P Sinitcyn, P Forny, TM Peters-Clarke, C Fecher, AJ Smith, ... bioRxiv, 2023.11. 21.568149, 2023 | 6 | 2023 |
| How guideline development has informed clinical research for organic acidurias (et vice versa) P Forny, F Hörster, MR Baumgartner, S Kölker, N Boy Journal of Inherited Metabolic Disease 46 (3), 520-535, 2023 | 4 | 2023 |
| Recovery of enzyme activity in biotinidase deficient individuals during early childhood P Forny, A Wicht, V Rüfenacht, A Cremonesi, J Häberle Journal of Inherited Metabolic Disease 45 (3), 605-620, 2022 | 3 | 2022 |
| Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency P Forny, X Bonilla, D Lamparter, W Shao, T Plessl, C Frei, A Bingisser, ... medRxiv, 2022 | 3* | 2022 |
Sean FroeseUniversity Children's Hospital, Zurich在 kispi.uzh.ch 的电子邮件经过验证
