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Enzyme Deficiency

Known as: deficiencies enzyme, deficiencies enzymes, Specific Enzyme Deficiency 
A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2007
Review
2007
The early observations on the rate-of-living theory by Max Rubner and the report by Gershman that oxygen free radicals exist in… 
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Highly Cited
2001
Highly Cited
2001
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory… 
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Highly Cited
1999
Highly Cited
1999
Fabry disease is a disorder of glycosphingolipid metabolism caused by deficiency of lysosomal α–galactosidase A (α–Gal A… 
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Review
1999
Review
1999
For the past 3 months, faculty and staff members at the University of Pennsylvania9s Institute for Human Gene Therapy have been… 
Highly Cited
1998
Highly Cited
1998
The human chitinase, named chitotriosidase, is a member of family 18 of glycosylhydrolases. Following the cloning of the… 
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Highly Cited
1997
Highly Cited
1997
Friedreich ataxia (FRDA) is a common autosomal recessive degenerative disease (1/50,000 live births) characterized by a… 
Highly Cited
1995
Highly Cited
1995
GLUCOSES-PHOSPHATE dehydrogeiiase (G6PD) deficiency, the most common enzymopathy of humans, affects over 400 million people1. The… 
Highly Cited
1991
Highly Cited
1991
BACKGROUND AND METHODS Gaucher's disease, the most prevalent of the sphingolipid storage disorders, is caused by a deficiency of… 
Highly Cited
1973
Highly Cited
1973
Abstract The effect of intravenous administration of glucocerebrosidase isolated from human placenta was investigated in two… 
Highly Cited
1966
Highly Cited
1966
  • H. Harris
  • Proceedings of the Royal Society of London…
  • 1966
  • Corpus ID: 43582403
There are a large number of different enzymes synthesized in the human organism, and many of these probably contain more than one… 
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