Navegação Produção Científica por Assunto "Lysosomal disease"

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 ...

    • Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America 

      Giugliani, Roberto; Solano Villareal, Martha Luz; Arellano Valdez, Carmen Araceli; Mahfoud Hawilou, Antonieta; Guelbert, Norberto; Correa Garzón, Luz Norela; Martins, Ana Maria (Medicina); Acosta, Angelina Xavier; Cabello, Juan Francisco; Lemes, Aída; Santos, Mara Lúcia Schmitz Ferreira; Amartino, Hernan (2014) [Artigo de periódico]
      This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment ...