Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential

Autor: Bruno Duarte Gomes, Givago da Silva Souza, Gustavo Monteiro Viana, Isabel Cristina Neves de Souza, Patricia do Socorro Queiroz Feio, Ida Vanessa Doederlein Schwartz, Diane Ruschel Marinho, Manoel da Silva Filho, Roberto Giugliani, Luiz Carlos de Lima Silveira, Luiz Carlos Santana da Silva

Publikováno v: Case Reports in Ophthalmology, Vol 3, Iss 1, Pp 104-112 (2012)

Purpose: To evaluate the visual system of patients suffering from type I or VI mucopolysaccharidosis (MPS) by recording the visual evoked cortical potential (VECP). Methods: Two patients with MPS VI and 2 patients with MPS I were tested before and af

Externí odkaz: https://doaj.org/article/651b8bfe36cb42209a5e8c02f308255c

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy

Autor: Antônio R. Coimbra-Neto, Alzira Alves de Siqueira Carvalho, Jonas Alex Morales Saute, Marcia Lorena Fagundes Chaves, Regina Célia Beltrão Duarte, Cynthia Costa e Silva, Rodrigo de Holanda Mendonça, Ana Cotta, Pablo Brea Winckler, Umbertina Conti Reed, Eduardo B. U. Cavalcanti, Carlo Domenico Marrone, Renata Barreto Tenório, Marcondes C. França, Julia Filardi Paim, Marcela C. Machado-Costa, Antonette Souto El Husny, Marcus Goncalves, Marjory Irineu Bená, Isabel Cristina Neves de Souza, Cleonísio L. Rodrigues, Raimunda Helena Ferreira Feio, Daniel Fernando Arias Betancur, Cláudia Ferreira da Rosa Sobreira, André Macedo Serafim da Silva, Edmar Zanoteli, Elmano Carvalho, Camila de Aquino Cruz

Publikováno v: Clinical geneticsREFERENCES. 96(4)

Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous disorders characterized by predominantly proximal muscle weakness. We aimed to characterize epidemiological, clinical and molecular data of patients with autosomal reces

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d027c1177723db4a681d245623327edd
https://pubmed.ncbi.nlm.nih.gov/31268554

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Autor: Harmatz P1, Hendriksz CJ2, Lampe C3, McGill JJ4, Parini R5, Leão Teles E6, Valayannopoulos V7, Cole TJ8, Matousek R9, Graham S9, Guffon N10, Quartel A9, he MPS VI Study Group co investigators were Yasmina Amraoui, Children's Hospital, Md, University of Mainz, Germany, Laila, Arash, Children's Hospital, University of Mainz, Germany, Javier Arroyo, Md, Hospital San Pedro de Alcantara, Hospital de día de Pediatría, Caceres, Spain, Ana, Cecliaíazevedo, Serviço de Genética Médica/HCPA, Md, Department of Genetics/UFRGS, Porto Alegre, Brazil, Barone, RITA MARIA ELISA, Department of Pediatrics, Md, University of Catania, Catania, Italy, Michael Beck, Md, D. N. Bennett Jones, Md, Consultant General Renal Physician, Whitehaven, Philippe Bernard, Md, Centre Hospitalier d'Arras, Arras, France, Thierry Billette de Villemeur, Hôpital Trousseau, Paris, France, Raquel, Boy, Hospital Universitário Pedro Ernesto, Md, Rio de Janeiro, Brazil, Susan, Conrad, Research Center Oakland, Oakland, Ca, Usa, Eduardo Coopman, Md, Hospital del Cobre D. e. Salvador, Calama, Chile, Agata Fiumara, Md, Department of Pediatrics, University of Catania, Catania, Italy, William, Frischman, The Townsville Hospital, Md, Townsville, Australia, Roberto, Giugliani, Phd, Md, Serviço de Genética Médica/HCPA, Department of Genetics/UFRGS, Porto Alegre, Brazil, Elio Gizzi, Md, Children's Hospital Research Center Oakland, Oakland, Usa, Ca, Paul, Harmatz, John J. Hopwood, Department of Genetic Medicine, Women'S, Children's Hospital Adelaide, North Adelaide, Australia, Simon Jones, Md, Royal Manchester Children's Hospital, Manchester, Paige Kaplan, Children's Hospital of Philadelphia, Philadelphia, Pa, Laura Keppen, Md, Department of Pediatrics, University of South Dakota School of Medicine, Sioux Falls, Sd, David Ketteridge, Department of Genetic Medicine, Prof Rudolf Korinthenberg, Universitätsklinikum Freiburg, Zentrum für Kinderheilkunde und Jugendmedizin, Klinik II Neuropädiatrie und Muskelerkrankungen, Freiburg, Germany, Michel, Kretz, Hôpital Civil de Colmar, Md, Le Parc Centre de la Mère et de l'Enfant, Colmar, Elisa Leão Teles, Md, Unidade de Doenças Metabólicas, Departamento Pediatria, Hospital de Sao João, Porto, Portugal, Claudia Lee, Mph, Shuan Pei Lin, MacKay Memorial Hospital, Md, Department of Genetics, Taipei, Taiwan, Lionel Lubitz, Md, Royal Children's Hospital, Melbourne, Ana Maria Martins, Md, Unifesp, Instituto de Oncologia Pediátrica, Graacc/unifesp, Departamento de Pediatria, São Paulo, Brazil, Clara Sá Miranda, M., Unidade de Biologia do Lisossoma e. Peroxisoma, Md, Instituto de Biologia Molecular e. Celular, Porto, Stephanie Oates, RN Department of Genetic Medicine, Anne O'Meara, Md, Our Lady's Hospital for Sick Children, Dublin, Ireland, Ans van der Ploeg, Md, Erasmus MC University Medical Center, Rotterdam, The, Netherlands, Isabel Cristina Neves de Souza, Md, Universidade Federal do Pará, Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto, Belém, Ray Pais, Md, Pediatric Hematology/Oncology, East Tennessee Children's Hospital, Knoxville, Tn, Gregory Pastores, Md, Phd, NYU Medical Center, Rusk Institute, New York, Usa, Ny, Lorenzo, Pavone, Barbara Plecko, U. n. i. v. Klinik fur Kinder und Jugendheilkunde, Graz, Austria, Silvio, Pozzi, Ospedale Vito Fazzi, Md, UO Pediatria, Lecce, Uwe Preiss, Md, Universitaetsklinik und Poliklinik fuer Kinder, Halle, Emerson Santana Santos, Md, Fundação Universidade de Ciências da Saúde de Alagoas Governador, Departamento de Pediatria, Maceió, Brazil, Maurizio, Scarpa, Department of Pediatrics, University of Padova, Padova, Italy, Schwartz, Ida Vanessa D., David, Sillence, Westmead, Australia, Luiz Carlos Santana da Silva, Phd, Universidade Federal do Pará, Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto, Belém, Brazil, Julie, Simon, Children's Hospital, Rn, Prof Giovanni Sorge, Department of Pediatrics, Robert Steiner, Departments of Pediatrics, Molecular, Medical, Genetics, Oregon Health Science University, Portland, Usa, Or, Valadares, Eugênia R., Hospital das Clínicas, Faculdade de Medicina da Universidade Federal de Minas Gerais UFMG, Avenida Professor Alfredo Balena, Belo Horizonte Minas Gerais, Bonito Victor, Md, Lewis Waber, Md, Phd, Pediatric Genetics, Metabolism, University of Texas Southwest Medical Center, Dallas, Usa, Tx, John, Waterson, Whitley, Chester B., University of Minnesota Medical School, Minneapolis, Usa, Mn, Edmond Wraith, J., Royal Manchester Children's Hospital, Md, Manchester, U. k.

Publikováno v: Molecular genetics and metabolism. 122(1-2)

Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) derm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f77c6e102bd23c0c21993def3378be
https://pubmed.ncbi.nlm.nih.gov/28457718

Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential

Autor: Ida Vanessa Doederlein Schwartz, Bruno Gomes, Luiz Carlos L. Silveira, Isabel Cristina Neves de Souza, Diane Ruschel Marinho, Patricia do Socorro Queiroz Feio, Manoel da Silva Filho, Roberto Giugliani, Gustavo Monteiro Viana, Givago da Silva Souza, Luiz Carlos Santana da Silva

Publikováno v: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Case Reports in Ophthalmology
Case Reports in Ophthalmology, Vol 3, Iss 1, Pp 104-112 (2012)

Purpose: To evaluate the visual system of patients suffering from type I or VI mucopolysaccharidosis (MPS) by recording the visual evoked cortical potential (VECP). Methods: Two patients with MPS VI and 2 patients with MPS I were tested before and af

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9079f48c7afb92a996692b77782aceb0
https://doi.org/10.1159/000337492

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