Navegação por Assunto "Glucosilceramidase"
Resultados 1-4 de 4
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Difficulties in the diagnosis of Gaucher disease in a low-income country : a case report from Mozambique
(2021) [Artigo de periódico]Introduction: Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally. GD is an autosomal recessive condition, which results from mutations ... -
Identificação de alterações no gene da glicocerebrosidase em pacientes com doença de Gaucher
(2006) [Resumo publicado em evento] -
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease
(2016) [Artigo de periódico]Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1. Dysfunctional glucocerebrosidase ... -
Protocolo para detecção de glicosilceramida em plasma sangüíneo
(2006) [Resumo publicado em evento]