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Mostrando ítems 21-30 de 36
Unraveling the mystery of Gaucher bone density pathophysiology
(Academic Press Inc Elsevier Science, 2021-02)
Gaucher disease (GD) is caused by pathogenic mutations in GBA1, the gene that encodes the lysosomal enzyme β-glucocerebrosidase. Despite the existence of a variety of specific treatments for GD, they cannot completely ...
Consanguinidade e efeito fundador da mutação G377S da doença de Gaucher em população de Tabuleiro do Norte – Ceará – Brasil
(Universidade Federal do Rio Grande do NorteBrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM CIÊNCIAS DA SAÚDE, 2015-09-28)
Gaucher’s disease (GD) is caused by a β-glucocerebrosidase deficiency, leading to the accumulation of glucocerebroside in the reticuloendothelial system. The prevalence of GD in Tabuleiro do Norte (TN) (1:4000) is the ...
Genetic factors influencing the development and treatment of cognitive impairment and psychosis in Parkinson’s disease
(Springer, Cham, 2019)
Abstract: Parkinson’s Disease (PD) is a neurodegenerative disease in which both genetic
and environmental factors play significant roles. In addition to increasing the risk
of developing PD, gene mutations might also ...
Neuronopathic Gaucher disease : Beyond lysosomal dysfunction
(2022-08-03)
Gaucher disease (GD) is an inherited disorder caused by recessive mutations in the GBA1 gene that encodes the lysosomal enzyme β-glucocerebrosidase (β-GC). β-GC hydrolyzes glucosylceramide (GluCer) into glucose and ceramide ...
Diagnóstico temprano de enfermedad de Gaucher mediante detección de manifestaciones óseasEarly diagnosis of Gaucher disease based on bone symptoms
(Medicina (Buenos Aires), 2020-10)
La enfermedad de Gaucher (EG) es causada por una deficiencia genética de la glucocerebrosidasa (GCasa) que provoca acumulación de glucocerebrósido en hígado, bazo y médula ósea. La terapia temprana de reemplazo enzimático ...