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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7898
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pubmed:dateCreated |
1975-4-23
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pubmed:abstractText |
Deficiency of red-blood-cell adenosine deaminase (R.B.C.-A.D.A.) has been reported in a proportion of patients with the autosomal recessive form of severe combined immunodeficiency (S.C.I.D.). In a family in which a child had died with S.C.I.D., R.B.C.-A.D.A. levels in the parents and other members of the family were compatible with a heterozygous state for A.D.A. deficiency. Cultured amniotic-fluid cells obtained from a subsequent pregnancy contained less than 1.5% of A.D.A. activity of normal amniotic cultures. The prenatal diagnosis of A.D.A. deficiency was confirmed at birth by the absence of A.D.A. ACTIVITY IN THE CHILD'S RED-BLOOD-CELLS. Clinical and laboratory findings in this child are similar to those of the sibling who had died with S.C.I.D.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0140-6736
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
11
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pubmed:volume |
1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
73-5
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:46025-Aminohydrolases,
pubmed-meshheading:46025-Amniocentesis,
pubmed-meshheading:46025-Amniotic Fluid,
pubmed-meshheading:46025-Clinical Enzyme Tests,
pubmed-meshheading:46025-Electrophoresis,
pubmed-meshheading:46025-Erythrocytes,
pubmed-meshheading:46025-Female,
pubmed-meshheading:46025-Genes, Recessive,
pubmed-meshheading:46025-Genotype,
pubmed-meshheading:46025-Humans,
pubmed-meshheading:46025-Immunoglobulins,
pubmed-meshheading:46025-Immunologic Deficiency Syndromes,
pubmed-meshheading:46025-Infant,
pubmed-meshheading:46025-Infant, Newborn,
pubmed-meshheading:46025-Isoenzymes,
pubmed-meshheading:46025-Leukocyte Count,
pubmed-meshheading:46025-Male,
pubmed-meshheading:46025-Pedigree,
pubmed-meshheading:46025-Polymorphism, Genetic,
pubmed-meshheading:46025-Pregnancy,
pubmed-meshheading:46025-Prenatal Diagnosis
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pubmed:year |
1975
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pubmed:articleTitle |
Adenosine-deaminase deficiency in a child diagnosed prenatally.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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