Navegação por Assunto "Glicosaminoglicanos"
Resultados 1-5 de 5
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MUCOPOLISSACARIDOSES: MANIFESTAÇÕES CLÍNICAS E IMPORTÂNCIA DE UM ATENDIMENTO MULTIDISCIPLINAR
(2011) [Resumo publicado em evento] -
Mucopolissacaridose tipo I em cão
(2021) [Artigo de periódico]Background: Mucopolysaccharidoses (MPS) are a group of rare illnesses caused by deficient activity of enzymes required for degradation of glycosaminoglycans (GAGs). Each type of MPS is caused by mutations in one of the ... -
Mucopolysaccharidosis VII in Brazil : natural history and clinical findings
(2021) [Artigo de periódico]Background: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by defciency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications ... -
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives
(2020) [Artigo de periódico]Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming ... -
Triagem para formas atenuadas de mucopolissacaridose em pacientes com problemas ósteo-articulares de etiologia desconhecida
(2015) [Dissertação]Introdução: As mucopolissacaridoses (MPS) são um conjunto de sete doenças genéticas incluídas dentro das Doenças Lisossômicas que por sua vez fazem parte dos Erros Inatos do Metabolismo (EIM). São doenças multissistêmicas ...