Saskia M. Rombach

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. F. G. Aerts, J.E.M. Groener, Sijmen Kuiper et al. · Proceedings of the National Academy of Sciences · 2008 · 715 citations · Full text

Metabolic Syndrome, Fabry Disease, Lipid Storage +15

Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

Saskia M. Rombach, Natashe Lemos Dekker, Machtelt G. Bouwman et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2010 · 228 citations · Full text

Fabry Disease, Plasma Globotriaosylsphingosine, Pathology +4

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

Saskia M. Rombach, Bouwien E. Smid, Machtelt G. Bouwman et al. · Orphanet Journal of Rare Diseases · 2013 · 166 citations · Full text

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

Mariëlle J. van Breemen, Saskia M. Rombach, Nick Dekker et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2010 · 146 citations · Full text

Enzyme Replacement Therapy, Elevated Plasma Globotriaosylsphingosine, Hematology +4

Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome

Saskia M. Rombach, Johannes M. F. G. Aerts, Ben J. H. M. Poorthuis et al. · PLoS ONE · 2012 · 129 citations · Full text