Browsing Health Sciences by Author "Daher, Antonio"
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Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays
Bender, Fernanda; Burin, Maira Graeff; Medeiros, Fernanda; Bitencourt, Fernanda Hendges de; Civallero, Gabriel Eduardo Santiago; Kubaski, Francyne; Bravo, Heydy; Daher, Antonio; Carnier, Vanessa; Franco, José Franco; Giugliani, Roberto (2020) [Journal article]Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and ...