Browsing by Author "Burlina, Alberto"

Now showing items 1-2 of 2

    • Experience of the NPC Brazil network with a comprehensive program for the screening and diagnosis of Niemann-Pick disease type C 

      Kubaski, Francyne; Burlina, Alberto; Polo, Giulia; Pereira, Danilo; Herbst, Zackary M.; Silva, Camilo; Trapp, Franciele Barbosa; Tirelli, Kristiane Michelin; Lopes, Franciele Fátima; Burin, Maira Graeff; Facchin, Ana Carolina Brusius; Netto, Alice Brinckmann Oliveira; Faqueti, Larissa Gabriela; Iop, Gabrielle Dineck; Poletto, Édina; Giugliani, Roberto (2022) [Journal article]
      Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid ...

    • Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency 

      Kubaski, Francyne; Burlina, Alberto; Trapp, Franciele Barbosa; Tirelli, Kristiane Michelin; Lopes, Franciele Fátima; Facchin, Ana Carolina Brusius; Netto, Alice Brinckmann Oliveira; Poletto, Édina; Giugliani, Roberto (2022) [Journal article]
      Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin ...