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Patrick Forny
Patrick Forny
University Children's Hospital Zurich
在 kispi.uzh.ch 的电子邮件经过验证
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引用次数
引用次数
年份
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
1582021
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
882020
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
602014
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
452016
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
412016
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
392012
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
332019
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
322013
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
282021
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
282019
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
192021
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
122023
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
102022
Mitochondrial proteome research: the road ahead
ZN Baker, P Forny, DJ Pagliarini
Nature Reviews Molecular Cell Biology 25 (1), 65-82, 2024
72024
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
72022
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
72018
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
62023
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
42023
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
32022
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
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