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First trimester diagnosis of adenosine deaminase deficiency
Author(s) -
Dooley T.,
Fairbanks L. D.,
Simmonds H. A.,
Rodeck C. H.,
Nicolaides K. H.,
Soothill P. W.,
Stewart P.,
Morgan G.,
Levinsky R. J.
Publication year - 1987
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970070806
Subject(s) - adenosine deaminase , chorionic villi , purine nucleoside phosphorylase , first trimester , pregnancy , amp deaminase , adenosine deaminase deficiency , medicine , chorionic villus sampling , adenosine , prenatal diagnosis , obstetrics , enzyme , purine , biology , gestation , fetus , biochemistry , genetics
Adenosine deaminase deficiency has been detected in the first trimester by direct analysis of enzyme activity in chorionic villi in a pregnancy at risk. Data for purine nucleoside phosphorylase activity in chorionic villi from healthy controls in the first trimester are also presented and should allow equally rapid diagnosis of this disorder.