Francyne Kubaski, Ines Sousa, Tatiana Amorim, Danilo Pereira, Camilo Silva, Vitor Chaves, Ana Carolina Brusius-Facchin, Alice B O Netto, Juliano Soares, Filippo Vairo, Edina Poletto, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Xinying Hong, Zackary M Herbst, Alberto Burlina, Michael H Gelb, Roberto Giugliani
BACKGROUND: Lysosomal diseases (LDs) are progressive life-threatening disorders that are usually asymptomatic at birth. Specific treatments are available for several LDs, and early intervention improves patient's outcomes. Thus, these diseases benefit from newborn screening (NBS). We have performed a pilot study for six LDs in Brazil by tandem mass spectrometry. METHODS: Dried blood spot (DBS) samples of unselected newborns were analyzed by the Neo-LSD™ kit (Perkin-Elmer) by MS/MS...
July 13, 2023: Molecular Genetics and Metabolism