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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
BACKGROUND We investigated the long-term outcome of gene therapy for severe combined immunodeficiency (SCID) due to the lack of… (More)
  • table 1
  • figure 1
  • table 3
Is this relevant?
Highly Cited
2008
Highly Cited
2008
Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely… (More)
  • table 1
  • figure 1
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Adenosine deaminase (ADA) is a purine catabolic enzyme that manages levels of the biologically active purines adenosine and 2… (More)
  • figure 1
  • table I
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
1997
1997
Adenosine deaminase (ADA) deficiency typically causes severe combined immunodeficiency (SCID) in infants. We report metabolic… (More)
  • table 1
  • figure 1
  • figure 2
Is this relevant?
Highly Cited
1996
Highly Cited
1996
Somatic mosaicism in genetic disease generally results from a de novo deleterious mutation during embryogenesis. We now describe… (More)
Is this relevant?
Highly Cited
1995
Highly Cited
1995
Haematopoietic stem cells in umbilical cord blood are an attractive target for gene therapy of inborn errors of metabolism. Three… (More)
Is this relevant?
Highly Cited
1987
Highly Cited
1987
We treated two children who had adenosine deaminase deficiency and severe combined immunodeficiency disease by injecting bovine… (More)
Is this relevant?
Highly Cited
1978
Highly Cited
1978
The inherited deficiency of adenosine deaminase (adenosine aminohydrolase; EC 3.5.4.4) activity in humans is associated with an… (More)
Is this relevant?
Highly Cited
1977
Highly Cited
1977
Inherited deficiencies of the enzymes adenosine deaminase (adenosine aminohydrolase; EC 3.5.4.4) and purine nucleoside… (More)
  • table 1
  • figure 1
  • figure 2
  • table 2
  • table 3
Is this relevant?
1976
1976
Deoxyadenosine was identified in the urine of a second child with almost undetectable levels of adenosine deaminase (ADA) in… (More)
  • figure 2
  • figure 1
  • figure 3
  • figure 4
  • table 1
Is this relevant?