• 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 ...