Browsing by Author "Faqueti, Larissa Gabriela"
Now showing items 1-4 of 4
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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) [Journal article]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) [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 ... -
Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
Wilke, Matheus Vernet Machado Bressan; Poswar, Fabiano de Oliveira; Borelli, Wyllians José Vendramini; Tirelli, Kristiane Michelin; Randon, Dévora Natalia; Lopes, Franciele Fátima; Bender, Fernanda; Sebastião, Fernanda Medeiros; Iop, Gabrielle Dineck; Faqueti, Larissa Gabriela; Silva, Layzon Antonio Lemos da; Kubaski, Francyne; Schuh, Artur Francisco Schumacher; Giugliani, Roberto; Schwartz, Ida Vanessa Doederlein (2023) [Journal article]Background: Parkinson’s disease (PD) is the second most common neurodegenerative disease worldwide. Its classic motor symptoms may be preceded by non-motor symptoms (NMS). Population studies have identified GBA variants ... -
Triagem neonatal expandida por espectrometria de massas em tandem no município de Porto Alegre : resultados das 3 primeiras semanas do estudo-piloto
Bitencourt, Fernanda Hendges de; Castro, Simone Martins de; Giugliani, Roberto; Ludwig, Nataniel Floriano; Tonon, Tássia; Kopacek, Cristiane; Acosta, Marina Bernardes; Iop, Gabrielle Dineck; Faqueti, Larissa Gabriela; Schwartz, Ida Vanessa Doederlein; Reis, Luzivan Costa; Kubaski, Francyne (2021) [Abstract published in event]