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 |
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, ... BMJ: British medical journal, 38, 2022 | 3 | 2022 |
Integrated multi-omics reveals anaplerotic insufficiency in methylmalonyl-CoA mutase deficiency P Forny, X Bonilla, D Lamparter, W Shao, T Plessl, C Frei, A Bingisser, ... medRxiv, 2022.01. 27.22269972, 2022 | 1 | 2022 |
Integrated multi-omic analysis of a rare inborn error of metabolism P Forny, X Bonilla Bustillo, D Lamparter, W Shao, T Plessl, C Frei, ... Molecular Genetics and Metabolism 135, 271-272, 2022 | | 2022 |