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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.
Review
2012
Review
2012
Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.
Highly Cited
1996
Highly Cited
1996
A novel A-->G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency.
We have identified the underlying molecular defect in a patient with hepatic lipase (HL) deficiency presenting with… 
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.
Review
1979
Review
1979
Update on gluten-sensitive enteropathy.
1978
1978
Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy.
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… 
Highly Cited
1963
Highly Cited
1963
Intestinal sucrase and isomaltase deficiency in two siblings.
The absence of sucrase and isomaltase activity from the duodenal mucosa of two siblings has been demonstrated in biopsy specimens… 
1962
1962
Identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses.
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