Concepedia

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, Djazia Heraoui, Linda Rossi‐Semerano, Marc Berger, Christian Rosé, Fabrice Camou, B. Grosbois, P. Kaminsky,

Orphanet Journal of Rare Diseases · 2012 · 150 citations · 35 references

DOIFull text

Open access

Abstract

This registry enabled the epidemiological description of GD in France and showed that BE occur even during treatment.

References

35

Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease

Norman W. Barton, Roscoe O. Brady, James M. Dambrosia et al. · New England Journal of Medicine · 1991 · 1.3K citations · Full text

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

Carla E. M. Hollak, Sonja van Weely, M. H. van Oers et al. · Journal of Clinical Investigation · 1994 · 899 citations · Full text

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Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

Roscoe O. Brady, Julian N. Kanfer, David J. Shapiro · Biochemical and Biophysical Research Communications · 1965 · 802 citations

, , +4

The Gaucher Registry

Joel Charrow, Hans C. Andersson, Paige Kaplan et al. · Archives of Internal Medicine · 2000 · 572 citations

Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system

Yoseph Shaaltiel, Daniel Bartfeld, Sharon Hashmueli et al. · Plant Biotechnology Journal · 2007 · 419 citations · Full text

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