Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia FM Vaz, JH McDermott, M Alders, SB Wortmann, S Kölker, ... Brain 142 (11), 3382-3397, 2019 | 92 | 2019 |
Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios [S] K Herzog, ML Pras-Raves, MAT Vervaart, ACM Luyf, AHC van Kampen, ... Journal of lipid research 57 (8), 1447-1454, 2016 | 77 | 2016 |
A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C. elegans AW Gao, IA Chatzispyrou, R Kamble, YJ Liu, K Herzog, RL Smith, ... Scientific reports 7 (1), 2408, 2017 | 72 | 2017 |
Defining functional classes of Barth syndrome mutation in humans YW Lu, L Galbraith, JD Herndon, YL Lu, M Pras-Raves, M Vervaart, ... Human molecular genetics 25 (9), 1754-1770, 2016 | 64 | 2016 |
Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics K Herzog, ML Pras-Raves, S Ferdinandusse, MAT Vervaart, ACM Luyf, ... Journal of inherited metabolic disease 41, 479-487, 2018 | 51 | 2018 |
Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation M Molenaars, BV Schomakers, HL Elfrink, AW Gao, MAT Vervaart, ... Disease models & mechanisms 14 (4), dmm047746, 2021 | 32 | 2021 |
A new derivatization reagent for LC–MS/MS screening of potential genotoxic alkylation compounds AM Van Wijk, HAG Niederländer, AHG Siebum, MAT Vervaart, ... Journal of pharmaceutical and biomedical analysis 74, 133-140, 2013 | 25 | 2013 |
Plasma lipidomics as a diagnostic tool for peroxisomal disorders K Herzog, ML Pras-Raves, S Ferdinandusse, MAT Vervaart, ACM Luyf, ... Journal of inherited metabolic disease 41, 489-498, 2018 | 24 | 2018 |
Non‐polar lipids accumulate during storage of transfusion products and do not contribute to the onset of transfusion‐related acute lung injury AL Peters, MAT Vervaart, R van Bruggen, D de Korte, R Nieuwland, ... Vox sanguinis 112 (1), 25-32, 2017 | 24 | 2017 |
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio FM Vaz, H van Lenthe, MAT Vervaart, FS Stet, JH Klinkspoor, HJ Vernon, ... Journal of Inherited Metabolic Disease 45 (1), 29-37, 2022 | 14 | 2022 |
Deciphering Developmental Disorders Study. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia FM Vaz, JH McDermott, M Alders, SB Wortmann, S Kölker, ... Brain 142, 3382-97, 2019 | 6 | 2019 |
Metabolomics and lipidomics in C. elegans using a single sample preparation M Molenaars, BV Schomakers, HL Elfrink, AW Gao, MAT Vervaart, ... bioRxiv, 2020.07. 06.190017, 2020 | 4 | 2020 |
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics FM Vaz, P Staps, JB van Klinken, H van Lenthe, M Vervaart, ... Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2024 | 1 | 2024 |
A conserved complex lipid signature marks human muscle aging and responds to short-term exercise GE Janssens, M Molenaars, K Herzog, L Grevendonk, CME Remie, ... Nature Aging, 1-13, 2024 | | 2024 |
Discovery of novel diagnostic biomarkers for Sjo< spacing diaeresis> gren-Larsson syndrome by untargeted lipidomics FM Vaz, P Staps, JB Klinken, H Lenthe, M Vervaart, RJ Wanders, ... | | 2024 |
PCYT2 Variants Disrupt Etherlipid Biosynthesis and Cause a Complex Hereditary Spastic Paraplegia JH McDermott, F Vaz, M Alders, SB Wortmann, S Koelker, ML Pras-Raves, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1097-1098, 2019 | | 2019 |
Topological differences but dysfunctional conservation of cardiolipin remodeling in mammals and yeast YW Lu, L Galbraith, JD Herndon, YL Lu, M Pras-Raves, M Vervaart, ... Mitochondrion, S4-S5, 2015 | | 2015 |