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List of works by Saskia M Rombach

ACE I/D polymorphism is associated with mortality in a cohort study of patients starting with dialysis

scientific article published on 01 November 2005

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

scientific article

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

scientific article published on 31 October 2011

Cost-effectiveness of enzyme replacement therapy for Fabry disease

scientific article published on 19 February 2013

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

scholarly article

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

scientific article published on 25 March 2013

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome

scientific article

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages

scientific article published on 04 February 2014

Prevalence of symptoms in female Fabry disease patients: a case-control survey

scientific article

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

scientific article published on 17 September 2010

The value of anti-neutrophil cytoplasmic antibodies (ANCA) testing for the diagnosis of ANCA-associated vasculitis, a systematic review and meta-analysis

scientific article published on 13 November 2020

The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease

scientific article published on 9 March 2010

Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine

scientific article published on 06 August 2012

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