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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

Related topics

Related topics

49 relations
3-methylcrotonyl CoA carboxylase 1 deficiency5,10-Methylenetetrahydrofolate reductase deficiencyArgininosuccinic AciduriaCarnitine palmitoyl transferase 1A deficiency

Narrower (32)

AROMATASE EXCESS SYNDROMEAngioedemas, HereditaryCarbamoyl-Phosphate Synthase I Deficiency DiseaseCitrullinemia

Broader (1)

Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2001
Highly Cited
2001
Defective metabolism of Leukotriene B4 in the Sjögren–Larsson Syndrome
Review
1992
Review
1992
The molecular basis of glucose-6-phosphate dehydrogenase deficiency.
Highly Cited
1984
Highly Cited
1984
Correction of feline arylsulphatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation
Feline and human mucopolysaccharidosis VI (MPS VI or Maroteaux–Lamy syndrome) are inherited autosomal recessive deficiencies of… 
Highly Cited
1983
Highly Cited
1983
Molecular cloning of human adenosine deaminase gene sequences.
Review
1980
Review
1980
The roles of transport and phosphorylation in nutrient uptake in cultured animal cells.
1978
1978
Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy.
1978
1978
Limited effect of erythrocyte and plasma infusions in adenosine deaminase deficiency.
Highly Cited
1976
Highly Cited
1976
Variation in lysosomal enzyme activity during growth in culture of human fibroblasts and amniotic fluid cells.
1968
1968
Branching enzyme-deficiency glycogenosis: studies in therapy.
Type IV glycogen storage disease is caused by a deficiency of the branching enzyme, oc-1,4-glucan: ox-1,4-glucan 6… 
1962
1962
Identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses.
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