Navegação Ciências da Saúde por Assunto "Doença de Gaucher"

Resultados 1-15 de 15

    • 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) [Artigo 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 Brazilian rare-disease center’s experience with glucosylsphingosine (lyso-Gb1) in patients with Gaucher Disease : exploring a novel correlation with IgG levels in plasma and a biomarker measurement in CSF 

      Wilke, Matheus Vernet Machado Bressan; Iop, Gabrielle Dineck; Faqueti, Larissa Gabriela; Silva, Layzon Antonio Lemos da; Kubaski, Francyne; Poswar, Fabiano de Oliveira; Tirelli, Kristiane Michelin; Randon, Dévora Natalia; Borelli, Wyllians José Vendramini; Giugliani, Roberto; Schwartz, Ida Vanessa Doederlein (2024) [Artigo de periódico]
      Gaucher disease (GD, OMIM 230800) is one of the most common lysosomal disorders, being caused by the deficient activity of the enzyme acid β-glucocerebrosidase (Gcase). Three clinical forms of Gaucher’s disease (GD) are ...

    • 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) [Artigo 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) [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 ...

    • 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) [Artigo 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 ...

    • Elevated holo-transcobalamin in Gaucher disease type II : a case report 

      Basgalupp, Suelen Porto; Donis, Karina Carvalho; Siebert, Marina; Vairo, Filippo Pinto e; Artigalas, Osvaldo Alfonso Pinto; Pinto, Louise Lapagesse de Camargo; Behringer, Sidney; Spiekerkotter, Ute; Hannibal, Luciana; Schwartz, Ida Vanessa Doederlein (2021) [Artigo de periódico]
      Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of β-glucocerebrosidase. Based on the presence and severity of neurological complications, GD is classified into types I, II (the ...

    • 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) [Artigo de periódico]
      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 ...

    • 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) [Artigo 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, ...

    • Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases : a survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries 

      Elstein, Deborah; Giugliani, Roberto; Muenzer, Joseph; Schenk, Jörn Magnus; Schwartz, Ida Vanessa Doederlein; Anagnostopoulou, Christina (2021) [Artigo de periódico]
      the needs of their healthcare providers were explored using a 12-question survey. Overall, 80/91 respondents (88%) indicated that the pandemic had negatively affected standards of care. With increased reliance on tele-medicine, ...

    • 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) [Artigo 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 ...

    • Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: initial results in Brazil 

      Camargo Neto, Eurico; Schulte, Jaqueline; Pereira, Jamile Queiroz; Villalta, Heydy Varinia Bravo; Sampaio Filho, Claudio Augusto; Giugliani, Roberto (2018) [Artigo de periódico]
      We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients ...

    • 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) [Artigo 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) [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 ...

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

      Breigeiron, Marcia Koja; Moraes, Vitória da Costa; Coelho, Janice Carneiro (2018) [Artigo 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) [Artigo 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 ...