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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
Highly Cited
1994
Highly Cited
1994
Pachydermoperiostosis: analysis of the connective tissue abnormality in one family.
Highly Cited
1993
Highly Cited
1993
Glycogen branching enzyme deficiency in adult polyglucosan body disease
Branching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi‐Jewish patients with adult… 
Review
1992
Review
1992
The molecular basis of glucose-6-phosphate dehydrogenase deficiency.
Highly Cited
1987
Highly Cited
1987
Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy
Highly Cited
1983
Highly Cited
1983
Molecular cloning of human adenosine deaminase gene sequences.
Highly Cited
1981
Highly Cited
1981
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase.
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.
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… 
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