Výsledky vyhledávání - "Mucopolissacaridose VI"

Distúrbios articulares de joelho e tornozelo durante a marcha funcional na mucopolissacaridose tipo VI

Autor: Bárbara Bernardo Figueirêdo, Paulo Magalhães, Breno Azevedo, Maria Lucila Cavalcanti, Maria Emília Melo, Cinthia Vasconcelos

Publikováno v: Fisioterapia e Pesquisa, Volume: 28, Issue: 1, Pages: 117-123, Published: 18 JUN 2021
Fisioterapia e Pesquisa, Vol 28, Iss 1, Pp 117-123 (2021)
Fisioterapia e Pesquisa v.28 n.1 2021
Fisioterapia e Pesquisa
Universidade de São Paulo (USP)
instacron:USP

To evaluate knee and ankle disorders during functional gait assessment in individuals with Mucopolysaccharidosis type VI (MPS VI). 19 subjects were included in this cross-sectional study and allocated in three groups according to age: Children Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f9036ddf643c836c082948a4dd1088
https://doi.org/10.1590/1809-2950/21003228012021

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Atención de enfermería a pacientes con mucopolisacaridosis VI: revisión integradora de la literatura

Autor: Alencar, Pedro Henrique Rodrigues, Lima , Karla Vanessa Morais, Tourinho , Erika Ferreira, Barbosa , Marluce Sampaio Nobre, Leite, Cristina Limeira, Queiroz, Patrícia dos Santos Silva, Nascimento, Nara Geovane da Costa, Lins, Gislene Oliveira Lima, Lopes, Sâmia Marques Tocantins, Lima Junior, Francisco Alves

Publikováno v: Research, Society and Development; Vol. 11 No. 1; e2211123435
Research, Society and Development; Vol. 11 Núm. 1; e2211123435
Research, Society and Development; v. 11 n. 1; e2211123435
Research, Society and Development
Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI

Objective: To highlight the needs of patients with Maroteaux-Lamy Syndrome or mucopolysaccharidosis VI, and in the light of this to propose possible nursing diagnoses. Methodology: The research is of a basic nature, descriptive, literature review. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::891263a63b8f28caa63ea7bffea03b7f
https://rsdjournal.org/index.php/rsd/article/view/23435

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Evaluación del centro de gravedad para niños y adolescentes con Mucopolisacaridosis tipo VI

Autor: Oliveira , Sabrina de Melo, Lima, Vanessa, Azevedo, Breno, Figueirêdo, Bárbara Bernardo

Publikováno v: Research, Society and Development; Vol. 10 No. 3; e1810313036
Research, Society and Development; Vol. 10 Núm. 3; e1810313036
Research, Society and Development; v. 10 n. 3; e1810313036
Research, Society and Development
Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI

Introduction: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is a rare, hereditary metabolic disease, known as a lysosomal deposit disease where patients have progressive deformities. There is a need to understand how the center of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::d4cbb8793c72d41d36ccbc980882dc9d
https://rsdjournal.org/index.php/rsd/article/view/13036

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Sistema colaborativo para usuários envolvidos com Mucopolissacaridose VI : um estudo de caso com profissionais de saúde pública

Autor: FREITAS, Gustavo Bruno Pereira de

Publikováno v: Biblioteca Digital de Teses e Dissertações da UFRPE
Universidade Federal Rural de Pernambuco (UFRPE)
instacron:UFRPE

Submitted by Mario BC (mario@bc.ufrpe.br) on 2022-04-04T20:38:23Z No. of bitstreams: 1 Gustavo Bruno Pereira de Freitas.pdf: 2647686 bytes, checksum: 5a7264f023631c1884f150890db507b9 (MD5) Made available in DSpace on 2022-04-04T20:38:23Z (GMT). No. o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::17933489f224545923ec52f49b9024c6
http://www.tede2.ufrpe.br:8080/tede2/handle/tede2/8557

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Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance

Autor: Akyol, Mehmet Umut, Giugliani, Roberto, Marinho, Diane Ruschel, Scarpa, Maurizio

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

Introduction: Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive natur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::677b529fc878af5d1f66aa052d3b41ae

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Level of independence, functional capacity and respiratory muscle strength of patients with mucopolysaccharidosis type VI in the Northeast of Brazil

Autor: Figueirêdo, Bárbara Bernardo Rinaldo da Silva, Magalhães, Paulo André Freire, Andrade, Liívia Barbosa de, Bezerra, Patrícia, Duarte, Maria do Carmo Menezes Bezerra

Publikováno v: Revista Brasileira de Saúde Materno Infantil, Volume: 18, Issue: 1, Pages: 83-92, Published: MAR 2018

Objectives: to assess the functional independence, functional capacity and respiratory muscle strength (RMS) in individuals with mucopolysaccharidosis (MPS) type VI. Methods: in this cross-sectional study, the Pediatric Evaluation of Disability Inven

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::070166317ee518d8c2bcbeb8f61ca2b8
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292018000100083&lng=en&tlng=en

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Avaliação do consumo alimentar de pacientes com mucopolissacaridose = Assessment of dietary intake of patients with mucopolysaccharidosis

Autor: Leite, Roberta B.

Publikováno v: Scientia Medica, Vol 24, Iss 1, Pp 19-25 (2014)

Objetivos: Avaliar o consumo alimentar de crianças e adolescentes com mucopolissacaridose. Métodos: Série de casos de mucopolissacaridose acompanhados regularmente em um serviço de referência da cidade de Salvador, Bahia, no período de janeiro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::932bc1273e9a2ff87f4fdf1b2c640e9f
http://revistaseletronicas.pucrs.br/ojs/index.php/scientiamedica/article/view/14485/11156

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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

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Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts

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)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::87e36c0dc33de522d6e10fba80c34115
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302010000300009

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Dissertation/ Thesis

Correlação entre os achados da fibronasolaringoscopia e da polissonografia em pacientes com mucopolissacaridose Tipo VI

Autor: Pereira, Denise Rotta Ruttkay

Publikováno v: Biblioteca Digital de Teses e Dissertações da UFRGSUniversidade Federal do Rio Grande do SulUFRGS.

INTRODUÇÃO: As mucopolissacaridoses (MPSs) formam um grupo raro de doenças congênitas lisossômicas de depósito, relacionadas a desordens do metabolismo dos glicosaminoglicanos (GAG). Os GAG, parcialmente degradados, acumulam-se nos diversos tec

Externí odkaz: http://hdl.handle.net/10183/129695

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