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Erythrocyte Adenosine Deaminase Deficiency without Immunodeficiency

Inherited deficiency of the purine salvage enzyme adenosine deaminase (ADA) gives rise to a syndrome of severe combined immunodeficiency (SCID). We have studied a 2.5-yr-old immunologically normal child who had been found to lack ADA in his erythrocytes during New York State screening of normal newb...

詳細記述

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書誌詳細
出版年:J Clin Invest
主要な著者: Hirschhorn, Rochelle, Roegner, Vivien, Jenkins, Trefor, Seaman, Carol, Piomelli, Sergio, Borkowsky, William
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Clinical Investigation 1979
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC372225/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/479373/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI109552
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