Navegação Ciências Biológicas por Assunto "Lysosomal storage diseases"

Resultados 1-13 de 13

    • Aplicação da biologia molecular no diagnóstico de doenças genéticas 

      Leistner-Segal, Sandra; Fachel, Angela Aguirres; Burlamaque-Neto, Antônio Carlos; Streit, Carla; Morari, Liana; Lima, Luciane Cauduro; Silva, Luiz Carlos Santana da; Petry, Marcia Fernanda Gomes; Carvalho, Tiago Santos; Matte, Ursula da Silveira; Pereira, Maria Luiza Saraiva (2001) [Artigo de periódico]
      Com os avanços da chamada Medicina Genômica, a análise molecular de doenças genéticas vem sendo cada vez mais necessária para a completa caracterização das alterações apresentadas por um indivíduo ou até mesmo essencial ...

    • Clinical and laboratorial study of 19 cases of mucopolysaccharidoses 

      Albano, Lilian Maria José; Sugayama, Sofia M. M.; Bertola, Débora Romeo; Andrade, Carlos E. F.; Utagawa, Cláudia Y.; Puppi, Flávia; Nader, Helena B.; Toma, Leny; Coelho, Janice Carneiro; Leistner-Segal, Sandra; Burin, Maira Graeff; Giugliani, Roberto; Kim, Chong Ae (2000) [Artigo de periódico]
      As mucopolissacaridoses (MPS) constituem um grupo de erros inatos do metabolismo lisossomal dos glicosaminoglicanos (GAG) bastante heterogêneo. A importância das MPS levou-nos a relatar as características de 19 casos. ...

    • Clinical profile among brazilian Mucopolysaccharidosis type II patients : subgroup analysis from the Hunter Outcome Survey 

      Horovitz, Dafne Dain Gandelman; Ribeiro, Márcia Gonçalves; Acosta, Angelina Xavier; Monteiro, Ana Cristina Martins; Botha, Jaco; Giugliani, Roberto (2023) [Artigo de periódico]
      Mucopolysaccharidosis type II (MPS II) is a rare genetic, multiorgan disease. Little information about the Brazilian context is available to date; thus, this descriptive subgroup analysis was conducted on Brazilian data ...

    • Clinical research challenges in rare genetic diseases in Brazil 

      Giugliani, Luciana; Vanzella, Cláudia; Zambrano, Marina Bauer; Donis, Karina Carvalho; Wallau, Thaís Klassmann Wendland; Costa, Fernando Machado da; Giugliani, Roberto (2019) [Artigo de periódico]
      Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number of people, collectively, the 6,000 to 8,000 rare conditions ...

    • Diagnostic and treatment strategies in mucopolysaccharidosis VI 

      Vairo, Filippo Pinto e; Federhen, Andressa; Baldo, Guilherme; Burin, Maira Graeff; Riegel, Mariluce; Leistner-Segal, Sandra; Giugliani, Roberto (2015) [Artigo de periódico]
      Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown ...

    • Drug repositioning applied to cardiovascular disease in Mucopolysaccharidosis 

      Silva, Gerda Cristal Villalba; Kruger, Thiago Steindorff; Schuh, Roselena Silvestri; Flores, Natália Cardoso; Matte, Ursula da Silveira (2022) [Artigo de periódico]
      Mucopolysaccharidoses (MPS) are genetic metabolic diseases characterized by defects in the activity of lysosomal hydrolases. In MPS, secondary cell disturbance affects pathways related to cardiovascular disorders. Hence, ...

    • Effect of collection, transport, processing and storage of blood specimens on the activity of lysomal enzimes in plasma and leukocytes 

      Burin, Maira Graeff; Dutra Filho, Carlos Severo; Brum, J.; Mauricio, T.; Amorim, M.; Giugliani, Roberto (2000) [Artigo de periódico]
      This study was designed to evaluate the effect of different conditions of collection, transport and storage on the quality of blood samples from normal individuals in terms of the activity of the enzymes ß- glucuronidase, ...

    • Leukocyte imbalances in Mucopolysaccharidoses patients 

      Lopes, Nuno; Maia, Maria L.; Pereira, Catia S.; Rodrigues, Inês Mondragão; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patrício; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Teles, Elisa Leão; Giugliani, Roberto; Coutinho, Maria F.; Alves, Sandra; Macedo, Maria de Fátima Matos Almeida Henriques de (2023) [Artigo de periódico]
      Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic ...

    • Lysosomal diseases : overview on current diagnosis and treatment 

      Poswar, Fabiano de Oliveira; Vairo, Filippo Pinto e; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Facchin, Ana Carolina Brusius; Kubaski, Francyne; Souza, Carolina Fischinger Moura de; Baldo, Guilherme; Giugliani, Roberto (2019) [Artigo de periódico]
      Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, ...

    • Medicamentos de alto custo para doenças raras no Brasil : o exemplo das doenças lisossômicas 

      Souza, Monica Vinhas de; Krug, Bárbara Côrrea; Picon, Paulo Dornelles; Schwartz, Ida Vanessa Doederlein (2010) [Artigo de periódico]
      Este artigo aborda, de forma crítica, aspectos das políticas públicas brasileiras para medicamentos, com ênfase nos de alto custo dirigidos às doenças raras. As doenças lisossômicas foram utilizadas como exemplo pela sua ...

    • Mucopolissacaridose tipo I em cão 

      Amaral, Andreza da Silva; Sales, Nathali Adrielli Agassi de; Rosado, Isabel Rodrigues; Giugliani, Roberto; Burin, Maira Graeff; Baldo, Guilherme; Martin, Ian; Alves, Endrigo Gabellini Leonel (2021) [Artigo de periódico]
      Background: Mucopolysaccharidoses (MPS) are a group of rare illnesses caused by deficient activity of enzymes required for degradation of glycosaminoglycans (GAGs). Each type of MPS is caused by mutations in one of the ...

    • Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: report from a reference laboratory 

      Giugliani, Roberto; Federhen, Andressa; Tirelli, Kristiane Michelin; Riegel, Mariluce; Burin, Maira Graeff (2017) [Artigo de periódico]
      Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some ...

    • Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions 

      Josahkian, Juliana Alves; Trapp, Franciele Barbosa; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Magalhães, Ana Paula Pereira Sholz de; Sebastião, Fernanda Medeiros; Bender, Fernanda; De Mari, Jurema de Fatima; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Málaga, Diana Elizabeth Rojas; Giugliani, Roberto (2021) [Artigo de periódico]
      The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, ...