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Fabry's Disease: Alpha-Galactosidase Deficiency

Authors: J A, Kint;

Fabry's Disease: Alpha-Galactosidase Deficiency

Abstract

The leukocytes of male patients with Fabry's disease are deficient in α-galactosidase. The α-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of β-galactosidase, β-acetylgalactosaminidase, and β-acetylglucosaminidase in the leukocytes of affected individuals are normal.

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Keywords

Adult, Male, Adolescent, Glycoside Hydrolases, Arthritis, Middle Aged, Galactosidases, Cerebrosides, Leukocytes, Humans, Female, Fluorometry, Glycosides, Child, Angiokeratoma, Carbohydrate Metabolism, Inborn Errors

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Powered by OpenAIRE graph
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selected citations
These citations are derived from selected sources.
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!
401
Top 1%
Top 0.1%
Top 1%
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