Concepedia

Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

Linda van der Tol, Einar Svarstad, Alberto Ortíz, Camilla Tøndel, João Paulo Oliveira, Liffert Vogt, Stephen Waldek, Derralynn Hughes, Robin Lachmann, Wim Terryn,

Molecular Genetics and Metabolism · 2014 · 64 citations · 26 references

DOI

Concepts

References

26

KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease

Paul E. Stevens, Sofia B. Ahmed, Juan Jesús Carrero et al. · Kidney International · 2024 · 7.4K citations · Full text

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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 · 727 citations · Full text

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The frequency of lysosomal storage diseases in The Netherlands

Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer et al. · Human Genetics · 1999 · 725 citations

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Safety and Complications of Percutaneous Kidney Biopsies in 715 Children and 8573 Adults in Norway 1988–2010

Camilla Tøndel, Bjørn Egil Vikse, Leif Bostad et al. · Clinical Journal of the American Society of Nephrology · 2012 · 268 citations

, , +9

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 · 230 citations · Full text

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