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pro vyhledávání: '"Denise Ann Carbonaro-Sarracino"'
Autor:
Donald B. Kohn, Kit L. Shaw, Elizabeth Garabedian, Denise Ann Carbonaro-Sarracino, Theodore B. Moore, Satiro N. De Oliveira, Gay M. Crooks, John Tse, Sally Shupien, Dayna Terrazas, Alejandra Davila, Amalia Icreverzi, Allen Yu, Krista M. Chun, Christian E. Casas, Provaboti Barman, Maritess Coronel, Beatriz Campo Fernandez, Ruixue Zhang, Roger P. Hollis, Chilenwa Uzowuru, Hilory Ricketts, Jinhua Xu Bayford, Valentina Trevisan, Serena Arduini, Frances Lynn, Mahesh Kudari, Andrea Spezzi, Lilith Reeves, Kenneth Cornetta, Robert A. Sokolic, Roberta Parrott, Rebecca Buckley, Claire Booth, Fabio Candotti, Harry L. Malech, Adrian J. Thrasher, H. Bobby Gaspar
Publikováno v:
Blood. 134:3345-3345
Background: Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) is a rare disorder caused by ADA gene mutations, leading to lymphotoxic build-up of purine metabolites and profound immunodeficiency. Historically, enzyme r