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

Autor: Giugliani, Roberto, Federhen, Andressa, Munõz Rojas, Maria Verônica, Vieira, Taiane Alves, Artigalas, Osvaldo Alfonso Pinto, Pinto, Louise Lapagesse de Camargo, Azevedo, Ana Cecília Medeiros Mano, Acosta, Angelina Xavier, Bonfim, Carmem Maria Sales, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne Dain Gandelman, Souza, Denize Bomfim, Norato, Denise Y.J., Marinho, Diane Ruschel, Palhares, Durval, Santos, Emerson de Santana, Ribeiro, Erlane Marques, Valadares, Eugênia Ribeiro, Guarany, Fábio Coelho, Lucca, Gisele Rosone de, Pimentel, Helena, Souza, Isabel Neves de, Corrêa Neto, Jordão, Fraga, José Carlos Soares de, Góes, José Eduardo Coutinho, Cabral, José Maria, Simeonato, José, Llerena Junior, Juan Clinton, Jardim, Laura Bannach, Giuliani, Liane de Rosso, Silva, Luiz Carlos Santana da, Santos, Mara Lúcia Ferreira, Moreira, Maria Ângela Fontoura, Kerstenetzky, Marcelo, Ribeiro, Márcia Gonçalves, Ruas, Nicole, Barrios, Patricia Martins Moura, Aranda, Paulo Cesar, Honjo, Raquel S., Boy, Raquel, Costa, Ronaldo David da, Souza, Carolina Fischinger Moura de, Alcântara, Flavio F., Avilla, Sylvio Gilberto A., Fagondes, Simone Chaves, Martins, Ana Maria (Medicina)

Publikováno v: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

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=od______3056::6c7304bc74a003bddc128fd606918bd0

Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios

Autor: Caram, Luiza Helena Acerbi, Funayama, Carolina Araújo Rodrigues, Spina, Cleide Íris, Giuliani, Liane de Rosso, Pina Neto, João Monteiro de

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 64, Issue: 2b, Pages: 466-472, Published: JUN 2006

Com o objetivo de verificar o alcance da investigação de causas do retardo no desenvolvimento neuromotor (RDNM), apresenta-se a experiência no atendimento em Pediatria, Neurologia Infantil e Genética Clínica, em nível terciário, de 73 criança

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::13dad1585d0f5a149202d4368ee593b9
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000300022&lng=en&tlng=en

Rare and intractable fibrodysplasia ossificans progressiva shows different PBMC phenotype possibly modulated by ascorbic acid and propranolol treatment.

Autor: Nascimento DR; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Balaniuc SLB; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Palhares DB; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Underwood A; Walsh University, Division of Mathematics and Sciences, North Canton, OH, USA., Palhares MG; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Alves F; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil.; Centro Universitário Metodista Izabela Hendrix- IMIH, Belo Horizonte, MG, Brazil., Vieira FO; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil.; Centro Universitário Metodista Izabela Hendrix- IMIH, Belo Horizonte, MG, Brazil., Souza-Fagundes EM; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil., Giuliani LR; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Xavier PCN; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Puerto HLD; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil., Santos RAS; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil., Milsted A; Walsh University, Division of Mathematics and Sciences, North Canton, OH, USA., Brum JM; Procter & Gamble Health Care & Global Clinical Sciences, Mason, OH, USA., Silva IS; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil., Martins AS; UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil.; UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil.

Publikováno v: Intractable & rare diseases research [Intractable Rare Dis Res] 2021 Aug; Vol. 10 (3), pp. 179-189.