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Review
. 2004 Nov;1(2):e21.
doi: 10.1371/journal.pmed.0010021. Epub 2004 Nov 30.

Enzyme replacement in Gaucher disease

Ernest Beutler  1
Affiliations
Review

Enzyme replacement in Gaucher disease

Ernest Beutler. PLoS Med. 2004 Nov.

Abstract

The development of enzyme replacement therapy for Gaucher disease was a triumph of translational medicine. What were the key steps in its development? What are the controversies surrounding its use?

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Conflict of interest statement

Competing Interests: The author declares that he has no competing interests.

Figures

Figure 1
Figure 1. Glucocerebrosidase Cleaves a Linkage within Glucosylceramide, a Normal Intermediate in Glycolipid Metabolism
Figure 2
Figure 2. A Meta-Analysis of the Decrease in Liver Size in Patients with Gaucher Disease Documented for Various Doses of Enzyme Given As Replacement Therapy
The individual studies included in the meta-analysis are listed in [9].
Figure 3
Figure 3. A Meta-Analysis of the Decrease in Liver and Spleen Size in Patients with Gaucher Disease As a Function of the Initial Organ Size
BW, body weight. Redrawn from [11].
See this image and copyright information in PMC

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References

    1. de Duve C. From cytases to lysosomes. Fed Proc. 1964;23:1045–1049. - PubMed
    1. Brady RO, Pentchev PG, Gal AE, Hibbert SR, Dekaban AS. Replacement therapy for inherited enzyme deficiency: Use of purified glucocerebrosidase in Gaucher's disease. N Engl J Med. 1974;291:989–993. - PubMed
    1. Beutler E, Dale GL, Guinto E, Kuhl W. Enzyme replacement therapy in Gaucher's disease: Preliminary clinical trial of a new enzyme preparation. Proc Natl Acad Sci U S A. 1977;74:4620–4623. - PMC - PubMed
    1. Belchetz PE, Crawley JC, Braidman IP, Gregoriadis G. Treatment of Gaucher's disease with liposome-entrapped glucocerebroside: Beta-glucosidase. Lancet. 1977;2:116–117. - PubMed
    1. Achord DT, Brot FE, Bell CE, Sly WS. Human beta-glucuronidase: In vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells. Cell. 1978;15:269–278. - PubMed