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Adenosine deaminase deficiency

Known as: ada deficiency 
An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1973-2017
05101519732017

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4 relations
Combined immunodeficiencySevere Combined ImmunodeficiencySevere combined immunodeficiency due to adenosine deaminase deficiencycongenital deficiency

Related mentions per year

Related mentions per year

1939-2018
19401960198020002020
Adenosine deaminase deficiency
Severe Combined Immunodeficiency
Combined immunodeficiency
congenital deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency

Papers overview

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Highly Cited
2009
Highly Cited
2009
Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
BACKGROUND We investigated the long-term outcome of gene therapy for severe combined immunodeficiency (SCID) due to the lack of… (More)
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Highly Cited
2008
Highly Cited
2008
Disease-Specific Induced Pluripotent Stem Cells
Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely… (More)
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Highly Cited
2000
Highly Cited
2000
Metabolic Consequences of Adenosine Deaminase Deficiency in Mice Are Associated with Defects in Alveogenesis, Pulmonary Inflammation, and Airway Obstruction
Adenosine deaminase (ADA) is a purine catabolic enzyme that manages levels of the biologically active purines adenosine and 2… (More)
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1997
1997
Adenosine deaminase deficiency in adults.
Adenosine deaminase (ADA) deficiency typically causes severe combined immunodeficiency (SCID) in infants. We report metabolic… (More)
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Highly Cited
1996
Highly Cited
1996
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
Somatic mosaicism in genetic disease generally results from a de novo deleterious mutation during embryogenesis. We now describe… (More)
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Highly Cited
1995
Highly Cited
1995
Engraftment of gene–modified umbilical cord blood cells in neonates with adenosine deaminase deficiency
Haematopoietic stem cells in umbilical cord blood are an attractive target for gene therapy of inborn errors of metabolism. Three… (More)
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Highly Cited
1987
Highly Cited
1987
Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase.
We treated two children who had adenosine deaminase deficiency and severe combined immunodeficiency disease by injecting bovine… (More)
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Highly Cited
1978
Highly Cited
1978
Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency.
The inherited deficiency of adenosine deaminase (adenosine aminohydrolase; EC 3.5.4.4) activity in humans is associated with an… (More)
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Highly Cited
1977
Highly Cited
1977
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s).
Inherited deficiencies of the enzymes adenosine deaminase (adenosine aminohydrolase; EC 3.5.4.4) and purine nucleoside… (More)
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1976
1976
Purine metabolism in adenosine deaminase deficiency.
Deoxyadenosine was identified in the urine of a second child with almost undetectable levels of adenosine deaminase (ADA) in… (More)
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