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

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Topic mentions per year

1942-2017
020406019422016

Papers overview

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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… (More)
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Highly Cited
2000
Highly Cited
2000
BACKGROUND The respiratory-chain deficiencies are a broad group of largely untreatable diseases. Among them, coenzyme Q10… (More)
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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… (More)
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Highly Cited
1998
Highly Cited
1998
The human chitinase, named chitotriosidase, is a member of family 18 of glycosylhydrolases. Following the cloning of the… (More)
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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… (More)
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Highly Cited
1996
Highly Cited
1996
Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary… (More)
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Highly Cited
1995
Highly Cited
1995
GLUCOSES-PHOSPHATE dehydrogeiiase (G6PD) deficiency, the most common enzymopathy of humans, affects over 400 million people1. The… (More)
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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… (More)
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Highly Cited
1989
Highly Cited
1989
Peroxisomal function was evaluated in a male infant with clinical features of neonatal adrenoleukodystrophy. Very long chain… (More)
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Highly Cited
1986
Highly Cited
1986
Activities of alanine:glyoxylate aminotransferase in the livers of two patients with primary hyperoxaluria type I were… (More)
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