Concepedia

Saskia M. Rombach

SM

16

Publications

1.8K

Citations

15

H-Index

2005

Active since

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

University of Amsterdam

Erasmus MC

Saskia M. Rombach is an author at Amsterdam UMC Location University of Amsterdam specializing in medicine, lysosomal storage disease, and pathology.

ORCID

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Publications per year

2005–2023

16

Publications

16

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

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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

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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

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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

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