Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients

Autor: Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)

Abstract Background Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well‐recogn

Externí odkaz: https://doaj.org/article/4e489ba45dbe4672ad5b584d02073b30

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

Autor: Dafne Dain Gandelman Horovitz, Carolina Fishinger Moura de Souza, Juan Politei, Alejandro Fainboim, Charles Marques Lourenço, Hernan Amartino, Martha Solano, José María Satizábal, Felipe Mendez Koch, Gloria Liliana Porras-Hurtado, Rachel Sayuri Honjo, Ana Maria Martins, Paula Frassinetti Vasconcelos de Medeiros

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports

Background Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent compromising of tissues and organ malfunction. Although incurable, most types o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ffb35aed50d080f47cf2b62c5d088b3
https://doi.org/10.1016/j.ymgmr.2020.100572

Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts

Autor: Gisele Rosone De Lucca, Chong Ae Kim, José Simeonato, Paulo Cesar Aranda, Helena Pimentel, José Maria Cabral, Ana Maria Martins, Denize Bomfim Souza, Flavio F Alcântara, Liane de Rosso Giuliani, Dafne Horovitz, Patricia Martins Moura Barrios, Rachel Sayuri Honjo, Angelina Xavier Acosta, Emerson de Santana Santos, Louise Lapagesse Carmargo Pinto, Denise Y. J. Norato, José Carlos Soares de Fraga, Juan C. Llerena, Mara Lisiane de Moraes dos Santos, Maria Verónica Muñoz Rojas, Roberto Giugliani, Carolina Fishinger Moura de Souza, Maria Ângela Moreira, Diane Ruschel Marinho, Simone Fagondes, Isabel Cristina Neves de Souza, Fábio Guarany, Marcelo Kerstenetzky, Charles Marques Lourenço, Sylvio Gilberto A Avilla, Nicole Ruas, Carmem Bomfim, Ana Cecília Azevedo, Márcia Gonçalves Ribeiro, Andressa Federhen, Erlane Marques Ribeiro, Taiane Alves Vieira, José Eduardo Góes, Jordão Correa Neto, Ronaldo Costa, Osvaldo Alfonso Pinto Artigalas, Durval Batista Palhares, Luiz Carlos Santana da Silva, Eugênia Ribeiro Valadares, Laura Bannach Jardim, Raquel Boy

Publikováno v: Revista da Associação Médica Brasileira v.56 n.3 2010
Revista da Associação Médica Brasileira
Associação Médica Brasileira (AMB)
instacron:AMB
Repositório Institucional da UFBA
Universidade Federal da Bahia (UFBA)
instacron:UFBA
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Repositório Institucional da UFPA
Universidade Federal do Pará (UFPA)
instacron:UFPA
Repositório Institucional da UFMS
Universidade Federal de Mato Grosso do Sul (UFMS)
instacron:UFMS

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=doi_dedup___::f8a2625a2f02f2b617f3c4e62095cb3b
https://doi.org/10.1590/s0104-42302010000300009