Elevated globotriaosylsphingosine is a hallmark of Fabry disease JM Aerts, JE Groener, S Kuiper, WE Donker-Koopman, A Strijland, ... Proceedings of the National Academy of Sciences 105 (8), 2812-2817, 2008 | 783 | 2008 |
Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases MJ Ferraz, ARA Marques, MD Appelman, M Verhoek, A Strijland, ... FEBS letters 590 (6), 716-725, 2016 | 140 | 2016 |
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso) Gb3 reduction and treatment outcome SM Rombach, JMFG Aerts, BJHM Poorthuis, JEM Groener, ... Public Library of Science 7 (10), e47805, 2012 | 137 | 2012 |
Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses MJ Ferraz, WW Kallemeijn, M Mirzaian, DH Moro, A Marques, P Wisse, ... Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2014 | 125 | 2014 |
Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography–tandem mass spectrometry H Gold, M Mirzaian, N Dekker, M Joao Ferraz, J Lugtenburg, JDC Codée, ... Clinical chemistry 59 (3), 547-556, 2013 | 114 | 2013 |
Glucosylated cholesterol in mammalian cells and tissues: Formation and degradation by multiple cellular β-glucosidases [S] ARA Marques, M Mirzaian, H Akiyama, P Wisse, MJ Ferraz, P Gaspar, ... Journal of lipid research 57 (3), 451-463, 2016 | 92 | 2016 |
Reducing GBA2 activity ameliorates neuropathology in Niemann-Pick type C mice ARA Marques, J Aten, R Ottenhoff, CPAA van Roomen, D Herrera Moro, ... PloS one 10 (8), e0135889, 2015 | 83 | 2015 |
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients BE Smid, SM Rombach, JMFG Aerts, S Kuiper, M Mirzaian, HS Overkleeft, ... Orphanet journal of rare diseases 6, 1-10, 2011 | 83 | 2011 |
Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard M Mirzaian, P Wisse, MJ Ferraz, H Gold, WE Donker-Koopman, ... Blood Cells, Molecules, and Diseases 54 (4), 307-314, 2015 | 79 | 2015 |
Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice M Dahl, A Doyle, K Olsson, JE Månsson, ARA Marques, M Mirzaian, ... Molecular Therapy 23 (5), 835-844, 2015 | 76 | 2015 |
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients BE Smid, MJ Ferraz, M Verhoek, M Mirzaian, P Wisse, HS Overkleeft, ... Orphanet journal of rare diseases 11, 1-12, 2016 | 69 | 2016 |
In vivo inactivation of glycosidases by conduritol B epoxide and cyclophellitol as revealed by activity‐based protein profiling CL Kuo, WW Kallemeijn, LT Lelieveld, M Mirzaian, I Zoutendijk, A Vardi, ... The FEBS journal 286 (3), 584-600, 2019 | 62 | 2019 |
Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders MJ Ferraz, ARA Marques, P Gaspar, M Mirzaian, C van Roomen, ... Molecular genetics and metabolism 117 (2), 186-193, 2016 | 56 | 2016 |
Cross-laboratory standardization of preclinical lipidomics using differential mobility spectrometry and multiple reaction monitoring M Ghorasaini, Y Mohammed, J Adamski, L Bettcher, JA Bowden, ... Analytical Chemistry 93 (49), 16369-16378, 2021 | 50 | 2021 |
Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards M Mirzaian, P Wisse, MJ Ferraz, ARA Marques, P Gaspar, SV Oussoren, ... Clinica Chimica Acta 466, 178-184, 2017 | 50 | 2017 |
Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry [S] M Mirzaian, G Kramer, BJHM Poorthuis Journal of lipid research 56 (4), 936-943, 2015 | 42 | 2015 |
Quantitative proteome analysis of mouse liver lysosomes provides evidence for mannose 6-phosphate-independent targeting mechanisms of acid hydrolases in mucolipidosis II S Markmann, S Krambeck, CJ Hughes, M Mirzaian, JMFG Aerts, P Saftig, ... Molecular & Cellular Proteomics 16 (3), 438-450, 2017 | 34 | 2017 |
Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease O Cabasso, S Paul, O Dorot, G Maor, O Krivoruk, M Pasmanik-Chor, ... Journal of Clinical Medicine 8 (9), 1420, 2019 | 33 | 2019 |
Role of μ-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish LT Lelieveld, M Mirzaian, CL Kuo, M Artola, MJ Ferraz, REA Peter, ... Journal of Lipid Research 60 (11), 1851-1867, 2019 | 30 | 2019 |
Synthesis of a panel of carbon‐13‐labelled (glyco) sphingolipids P Wisse, H Gold, M Mirzaian, MJ Ferraz, G Lutteke, RJ van den Berg, ... European Journal of Organic Chemistry 2015 (12), 2661-2677, 2015 | 23 | 2015 |