Navegação Ciências da Saúde por Assunto "GBA1"

Resultados 1-2 de 2

    • Difficulties in the diagnosis of Gaucher disease in a low-income country : a case report from Mozambique 

      Pinto, Félix Pedro; Nassone, Ema; Ismail, Muhammad; Jamisse, Astrilde; Kubaski, Francyne; Facchin, Ana Carolina Brusius; Giugliani, Roberto; Madeira, Luís; Fernandes, Fabíola (2021) [Artigo de periódico]
      Introduction: Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally. GD is an autosomal recessive condition, which results from mutations ...

    • Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 

      Paskulin, Lívia D'Avila; Starosta, Rodrigo Tzovenos; Zizemer, Vitória Schütt; Basgalupp, Suelen Porto; Bertholdo, Débora; Vairo, Filippo Pinto e; Siebert, Marina; Tirelli, Kristiane Michelin; Schwartz, Ida Vanessa Doederlein (2019) [Artigo de periódico]
      Introduction:Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia,thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenicvariants ...