Navegação Ciências da Saúde por Autor "Coelho, Janice Carneiro"
Resultados 1-8 de 8
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Aetilogical evaluation of mental retardation in brazilian patients
(2001) [Artigo de periódico]INTRODUCTION: Mental retardation is present in approximately 2-3 % of the population. Clinical geneticists are frequently asked to evaluate children with development delay or mental retardation. Identifying the cause of ... -
Effect of dimethylsufoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts
(1999) [Artigo de periódico]Niemann-Pick type C (NPC) fibroblasts present a large concentration of cholesterol in their cytoplasm due to a still unidentified deficiency in cholesterol metabolism. The influence of dimethylsulfoxide (DMSO) on the amount ... -
Effect of one year of cryopreservation on the activity of lysosomal hydrolases from EBV-transformed lymphocytes
(2011) [Artigo de periódico]The Epstein-Barr virus (EBV) was used as an agent of B lymphocyte proliferation for subsequent diagnosis of lysosomal storage disease. Due to the constant handling of long-preserved samples in our cell bank, we decided to ... -
Investigação de erros inatos do metabolismo
(2001) [Artigo de periódico]Os erros inatos do metabolismo são doenças metabólicas hereditárias individualmente raras, mas que em seu conjunto apresentam uma incidência aproximada de pelo menos 1 caso para cada mil nascimentos. O presente trabalho ... -
Population analysis of the GLB1 gene in South Brazil
(2011) [Artigo de periódico]Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the ... -
Sinais e sintomas na Doença de Gaucher : diagnósticos de enfermagem prioritários
(2018) [Artigo de periódico]Objetivo: Identifi car os sinais e sintomas de pacientes com Doença de Gaucher, inferindo os possíveis diagnósticos de enfermagem prioritários. Método: Estudo transversal, desenvolvido em laboratório especializado, entre ... -
The effect of mycoplasma and mycoplasma removal agent on the hydrolase activity in fibroblasts of patients with lysosomal diseases
(2010) [Artigo de periódico]Este estudio fue disenado para evaluar el efecto de la contaminacion por micoplasmas sobre la actividad de hidrolasas acidas y la accion del agente de eliminacion de micoplasmas (MRA) en cultivos de fibroblastos humanos ... -
Transient high-level expression of B-galactosidase after transfection of fibroplasts from GM1 gangliosidosis patients with plasmid DNA
(2008) [Artigo de periódico]GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase ß-galactosidase (ß-Gal). It is one of the most frequent lysosomal storage disorders in Brazil, with an estimated ...
