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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

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2004
2004
Partial correction of the α‐galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors
Fabry disease is a recessive, X‐linked disorder caused by a deficiency of the lysosomal enzyme α‐galactosidase A, leading to an… 
1997
1997
Fatal phenformin-associated lactic acidosis.
1987
1987
A study of the molecular pathology of sucrase-isomaltase deficiency. A defect in the intracellular processing of the enzyme.
The intestinal brush-border enzyme sucrase-isomaltase splits sucrose into its component monosaccharides, glucose and fructose. A… 
1986
1986
Heterozygosity for phosphodiester glycosidase deficiency: a novel human mutation of lysosomal enzyme processing
SummaryWe have carried out studies on the fibroblasts of III-3, a clinically normal Lebanese individual previously reported to… 
1976
1976
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Complementation of beta hexosaminidase A (hex A) deficiency was obtained by Sendai virus-mediated somatic cell hybridization of… 
Review
1975
Review
1975
Diet and intestinal enzyme adaptation: implications for gastrointestinal disorders.
Recent studies have demonstrated that the human intestinal enzymes of carbohydrate digestion and metabolism can be regulated by… 
1975
1975
Arginine gene cluster of Serratia marcescens.
Biochemical and genetic studies on the arginine-requiring auxotrophs derived from a Serratia marcescens strain were carried out… 
1970
1970
Diagnosis of erythrocyte glucose-6-phosphate dehydrogenase deficiency in the negro male despite hemolytic crisis.
A simple procedure for the diagnosis of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Negro males experiencing… 
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… 
1963
1963
Glucose-6-Phosphate Dehydrogenase Deficiency and Haemolytic Disease of the Newborn in Israel*
Recent reports from Sardinia, Greece and Malaya indicate that glucose-6phosphate dehydrogenase (G-6PD) deficiency may constitute…