Listar Ciencias de la Salud por tema "Gaucher disease"

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    • Assessment of cellular cobalamin metabolism in Gaucher disease 

      Basgalupp, Suelen Porto; Siebert, Marina; Ferreira, Charles Francisco; Behringer, Sidney; Spiekerkotter, Ute; Hannibal, Luciana; Schwartz, Ida Vanessa Doederlein (2020) [Artículo de periódico]
      Background: Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. ...

    • A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide 

      Mehta, Atul B.; Ramaswami, Uma; Muenzer, Joseph; Giugliani, Roberto; Ullrich, Kurt; Histed, Tanya Collin; Panahloo, Zoya; Wellhoefer, Hartmann; Frader, Joel (2021) [Artículo de periódico]
      Background: Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifesta‑ tions and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement ...

    • 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) [Artículo 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 ...

    • Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients : a systematic review 

      Doneda, Divair; Netto, Cristina Brinckmann Oliveira; Moulin, Cileide Cunha; Schwartz, Ida Vanessa Doederlein (2013) [Artículo de periódico]
      Background: Gaucher disease (GD) type I is the most common type of GD. Its main clinical manifestations are hepatosplenomegaly as well as bone and hematological abnormalities. The objective of the present study was to ...

    • Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1 

      Starosta, Rodrigo Tzovenos; Siebert, Marina; Vairo, Filippo Pinto e; Costa, Bruno Lafaiete de Lima; Ponzoni, Christiano Tomasso Silveira; Schwartz, Ida Vanessa Doederlein; Cerski, Carlos Thadeu Schmidt (2021) [Artículo de periódico]
      Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a disturbance in the metabolism of glucocerebroside in the macrophages. Most of its manifestations – hepatosplenomegaly, anemia, thrombocytopenia, ...

    • Liver involvement in patients with Gaucher disease types I and III 

      Starosta, Rodrigo Tzovenos; Vairo, Filippo Pinto e; Dornelles, Alícia Dorneles; Basgalupp, Suelen Porto; Siebert, Marina; Pedroso, Maria Lúcia Alves; Cerski, Carlos Thadeu Schmidt; Álvares-da-Silva, Mário Reis; Schwartz, Ida Vanessa Doederlein (2020) [Artículo de periódico]
      Background & aims Gaucher disease (GD) is a multisystemic disease. Liver involvement in GD is not well characterised and ranges from hepatomegaly to cirrhosis and hepatocellular carcinoma. We aim to describe, and assess ...

    • A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease 

      Westbroek, Wendy; Nguyen, Matthew; Siebert, Marina; Lindstrom, Taylor; Burnett, Robert A.; Aflaki, Elma; Jung, Olive; Tamargo, Rafael; Rodriguez-Gil, Jorge L.; Acosta, Walter; Hendrix, An; Behre, Bahafta; Tayebi, Nahid; Fujiwara, Hideji; Sidhu, Rohini; Renvoise, Benoit; Ginns, Edward I.; Dutra, Amalia; Pak, Evgenia; Cramer, Carole; Ory, Daniel S.; Pavan, William J.; Sidransky, Ellen A. (2016) [Artículo de periódico]
      Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1. Dysfunctional glucocerebrosidase ...

    • 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) [Artículo 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 ...

    • Sinais e sintomas na Doença de Gaucher : diagnósticos de enfermagem prioritários 

      Breigeiron, Marcia Koja; Moraes, Vitória da Costa; Coelho, Janice Carneiro (2018) [Artículo de periódico]
      Objetivo: Identifi car os sinais e sintomas de pacientes com Doença de Gaucher, inferindo os possíveis diagnósticos de enfermagem prioritários. Método: Estudo transversal, desenvolvido em laboratório especializado, entre ...

    • The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease 

      Koppe, Tiago de Bone; Doneda, Divair; Siebert, Marina; Paskulin, Lívia D'Avila; Camargo, Matheus Brunstein; Tirelli, Kristiane Michelin; Vairo, Filippo Pinto e; Daudt, Liane Esteves; Schwartz, Ida Vanessa Doederlein (2016) [Artículo de periódico]
      The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD ...