Pilot study of newborn screening for six lysosomal diseases in Brazil
Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo de Assis Pereira, Camilo Silva, Vitor Chaves, Ana Carolina Brusius‐Facchin, Alice Brinckmann Oliveira Netto, Juliano Soares, Filippo Pinto e Vairo, Édina Poletto, Joe Trometer, Alexandre Lima de Souza, Enzo Ranieri, Giulia Polo, Xinying Hong, Zackary M. Herbst, Alberto Burlina, Michael H. Gelb, Roberto Giugliani
Topics & Concepts
Newborn screeningDried blood spotAsymptomaticMedicineFabry diseaseDried bloodEnzyme replacement therapyTandem mass spectrometryDiseasePediatricsInternal medicineMass spectrometryChromatographyBiologyGeneticsChemistryLysosomal Storage Disorders ResearchBiomedical Research and PathophysiologyErythrocyte Function and Pathophysiology