Listar Ciencias de la Salud por autor "Iop, Gabrielle Dineck"

Mostrando ítems 1-2 de 2

    • Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry 

      Civallero, Gabriel Eduardo Santiago; Kubaski, Francyne; Pereira, Danilo; Rübensam, Gabriel; Herbst, Zackary M.; Silva, Camilo; Trapp, Franciele Barbosa; Poletto, Édina; Faqueti, Larissa Gabriela; Iop, Gabrielle Dineck; Soares, Juliano; Linden, Vanessa van der; Lourenço, Charles Marques; Giugliani, Roberto (2022) [Artículo de periódico]
      Aromatic l-amino acid decarboxylase (AADC, EC 4.1.1.28) deficiency is a rare genetic disorder characterized by developmental delay, oculogyric crises, autonomic dysfunction and other problems, caused by biallelic mutations ...

    • 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) [Artículo de periódico]
      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 ...