Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
- Patrick Forny, Ximena Bonilla, David Lamparter, …, Bernd Wollscheid, Matthias R Baumgartner, D Sean Froese
- Nat Metab, 10.1038/s42255-022-00720-8
How guideline development has informed clinical research for organic acidurias (et vice versa)
- Patrick Forny, Friederike Hörster, Matthias R Baumgartner, …, Matthias R Baumgartner, Stefan Kölker, Nikolas Boy
- J Inherit Metab Dis, 10.1002/jimd.12586
Caregiver burden, and parents’ perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism
- Florin Bösch, Markus A Landolt, Matthias R Baumgartner, …, Sabine Scholl-Bürgi, Gabor Szinnai, Martina Huemer
- Mol Genet Metab, 10.1016/j.ymgmr.2022.100876
Recovery of enzyme activity in biotinidase deficient individuals during early childhood
- Patrick Forny, Andrea Wicht, Véronique Rüfenacht, Alessio Cremonesi, Johannes Häberle
- J Inherit Metab Dis, 10.1002/jimd.12490
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
- Patrick Forny, Tanja Plessl, Caroline Frei, Celine Bürer, D Sean Froese, Matthias R Baumgartner
- Hum Genet, 10.1007/s00439-021-02398-6
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era
- Patrick Forny, Emma Footitt, James E Davison, …, Thomas S Jacques, Thomas Cullup, Shamima Rahman
- Neurology, 10.1212/nxg.0000000000000597
Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?
- Patrick Forny, Patricie Burda, Peter Bode, Marianne Rohrbach
- None, 10.1002/jmd2.12168
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
- Alessandro Luciani, Anke Schumann, Marine Berquez, …, Diego Di Bernardo, Matthias R Baumgartner, Olivier Devuyst
- Nat Commun, 10.1038/s41467-020-15565-6
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
- Alessandro Luciani, Anke Schumann, Marine Berquez, …, Diego Di Bernardo, Matthias R Baumgartner, Olivier Devuyst
- Nat Commun, 10.1038/s41467-020-14729-8
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria
- Parith Wongkittichote, Gary Cunningham, Marshall L Summar, …, Patrick Forny, Matthias R Baumgartner, Kimberly A Chapman
- Mol Genet Metab, 10.1016/j.ymgme.2019.10.007
Liver neoplasms in methylmalonic aciduria: An emerging complication
- Patrick Forny, Michel Hochuli, Yusof Rahman, …, Achim Weber, Julien Baruteau, Stephanie Grunewald
- J Inherit Metab Dis, 10.1002/jimd.12143