Orthopedic manifestations in patients with muco­polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey

by Bianca Link, Louise Lapagesse de Camargo Pinto, Roberto Giugliani, James Edmond Wraith, Nathalie Guffon, Elke Eich, Michael Beck
Published 2010-07-01

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion Distonia, doença autoimune e anormalidades da substância branca cerebral em paci...

by Carla Graziadio, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Louise Lapagesse de Camargo Pinto, Liselotte Menke Barea, Giorgio Adriano Paskulin
Published 2009-09-01

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil

by Tiago Fernando Chaves, Luan Freitas Oliveira, Maristela Ocampos, Ingrid Tremel Barbato, Gisele Rozone de Luca, Jorge Humbeto Barbato Filho, Louise Lapagesse de Camargo Pinto, Pricila Bernardi, Angelica Francesca Maris
Published 2019-03-01

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

by Alícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, Carlos Eduardo Steiner, Charles Marques Lourenço, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Erlane Marques Ribeiro, Eugênia Ribeiro Valadares, Isabela Goulart, Isabel C. Neves de Souza, João Ivanildo da Costa Neri, Luiz Carlos Santana-da-Silva, Luiz Roberto Silva, Márcia Ribeiro, Ruy Pires de Oliveira Sobrinho, Roberto Giuglianiand, Ida Vanessa Doederlein Schwartz
Published 2014-01-01