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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao https://doi.org/10.1...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
https://doi.org/10.1007/978-1-...
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Enzyme Replacement Therapy for the Sphingolipidoses

Authors: G. E. Mook; Peter G. Pentchev; Roscoe O. Brady; John W. Kusiak; John F. Tallman; Andrew E. Gal; Sue R. Hibbert; +2 Authors

Enzyme Replacement Therapy for the Sphingolipidoses

Abstract

The greatest progress in the field of inheritable disorders during the past decade was made in the understanding and control of lipid storage diseases. Since original demonstrations in 1965 and 1966 of the metabolic defects in Gaucher’s disease (6,7) Niemann-Pick disease (8), Fabry’s disease (9), and metachromatic leukodystrophy (17), specific enzyme deficiencies were demonstrated in ten heritable disorders of lipid metabolism. These discoveries paved the way for the development of facile procedures for the diagnosis of homozygotes, the detection of heterozygous carriers, and the monitoring of pregnancies at risk for any of these diseases (1–4). These applications of basic research endeavors have provided much relief from human anguish and suffering and they are in wide use at this time. However, there still remains much to be done for affected patients and compassionate physicians continue to seek further help in the treatment of hundreds of patients with these diseases. In particular, the therapy of patients with Type I (adult) Gaucher’s disease in whom skeletal involvement causes severe bone and joint pains, and patients with Fabry’s disease with intractable pains in arms and legs and progressive renal impairment deserves intensive attention. During the past three years much of our research efforts have been devoted to these two disorders.

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Keywords

Gaucher Disease, Time Factors, Glycoside Hydrolases, Ceramides, Lipidoses, Sphingolipidoses, Cerebrosides, Liver, Galactosylgalactosylglucosylceramidase, Glucosylceramidase, Humans

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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    14
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
14
Average
Top 10%
Top 10%
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