Patrick Forny

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen et al. · Journal of Inherited Metabolic Disease · 2021 · 247 citations · Full text

Critical Care Medicine, Transplant Outcomes, Metabolic Disorder +15

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

Alessandro Luciani, Anke Schumann, Marine Berquez et al. · Nature Communications · 2020 · 140 citations · Full text

Fast and deep phosphoproteome analysis with the Orbitrap Astral mass spectrometer

Noah M. Lancaster, Pavel Sinitcyn, Patrick Forny et al. · Nature Communications · 2024 · 61 citations · Full text

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

Patrick Forny, Anke Schumann, Merima Mustedanagic et al. · Journal of Biological Chemistry · 2016 · 60 citations · Full text

Molecular Genetic Characterization of 151<i>Mut</i>-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in<i>MUT</i>

Patrick Forny, Anne-Sophie Schnellmann, Celine Buerer et al. · Human Mutation · 2016 · 53 citations

Genetics, Renal Pathology, Genetic Epidemiology +22