Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Isabel Neves de Souza"'
Autor:
Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural his
Externí odkaz:
https://doaj.org/article/fe807eda91c44bb690419f9711fa3e6f
Autor:
Roberto Giugliani, Andressa Federhen, Maria Verônica Muñoz Rojas, Taiane Vieira, Osvaldo Artigalás, Louise Lapagesse Pinto, Ana Cecília Azevedo, Angelina Acosta, Carmen Bonfim, Charles Marques Lourenço, Kim Chong Ae, Dafne Horovitz, Denize Bonfim, Denise Norato, Diane Marinho, Durval Palhares, Emerson Santana Santos, Erlane Ribeiro, Eugênia Valadares, Fábio Guarany, Gisele Rosone de Lucca, Helena Pimentel, Isabel Neves de Souza, Jordão Correa Neto, José Carlos Fraga, José Eduardo Goes, José Maria Cabral, José Simionato, Juan Llerena Jr., Laura Jardim, Liane Giuliani, Luiz Carlos Santana da Silva, Mara L. Santos, Maria Angela Moreira, Marcelo Kerstenetzky, Márcia Ribeiro, Nicole Ruas, Patricia Barrios, Paulo Aranda, Rachel Honjo, Raquel Boy, Ronaldo Costa, Carolina Souza, Flavio F. Alcantara, Silvio Gilberto A. Avilla, Simone Fagondes, Ana Maria Martins
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 4, Pp 589-604 (2010)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tiss
Externí odkaz:
https://doaj.org/article/605a4018d82c450a9dcc43fa4125a727
Autor:
Roberto Giugliani, Andressa Federhen, Maria Verónica Muñoz Rojas, Taiane Alves Vieira, Osvaldo Artigalás, Louise Lapagesse Carmargo Pinto, Ana Cecília Azevedo, Angelina Xavier Acosta, Carmem Bomfim, Charles Marques Lourenço, Chong Ae Kim, Dafne Horovitz, Denize Bomfim Souza, Denise Norato, Diane Marinho, Durval Palhares, Emerson Santana Santos, Erlane Ribeiro, Eugênia Ribeiro Valadares, Fábio Guarany, Gisele Rosone De Lucca, Helena Pimentel, Isabel Neves de Souza, Jordão Corrêa Neto, José Carlos Fraga, José Eduardo Góes, José Maria Cabral, José Simeonato, Juan Clinton Llerena Jr, Laura Bannach Jardim, Liane de Rosso Giuliani, Luiz Carlos Santana da Silva, Mara Santos, Maria Ângela Moreira, Marcelo Kerstenetzky, Márcia Ribeiro, Nicole Ruas, Patricia Barrios, Paulo Aranda, Rachel Honjo, Raquel Boy, Ronaldo Costa, Carolina Fishinger Moura de Souza, Flavio F Alcântara, Sylvio Gilberto A Avilla, Simone Fagondes, Ana Maria Martins
Publikováno v:
Revista da Associação Médica Brasileira, Vol 56, Iss 3, Pp 271-277 (2010)
As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetado
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::87e36c0dc33de522d6e10fba80c34115
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302010000300009
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302010000300009