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Autor:
Raquel de Melo Alves Paiva, Julia Constança Fernandes, Crésio Alves, Rodrigo T. Calado, Silvana Sampaio
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia
Revista Brasileira de Hematologia e Hemoterapia, Vol 35, Iss 4, Pp 290-292 (2013)
Revista Brasileira de Hematologia e Hemoterapia, Vol 35, Iss 4, Pp 290-292 (2013)
Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic respo