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Bone Diseases as the only clinical manifestation of gaucher disease type
(Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal, 2013)
Gaucher disease (GD) is a lysosomal disease, due to the deficiency of Iˆ2-glucosidase, characterized by invol vement of hematopoietic organs such as the spleen, liver, bone marrow, lung, and bone. Bone is the second most ...
Examining the impact of bone pathology on type I Gaucher disease
(Taylor & Francis, 2014)
Gaucher disease (GD) is an autosomal recessively inherited lysosomal disorder caused by mutations in GBA gene leading to deficient activity of the lysosomal enzyme acid β-glucocerebrosidase. Phenotipically, 3 different ...
Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
(Hindawi Publishing Corporation, 2015-05)
Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily ...
Induction of osteoclastogenesis in an in vitro model of Gaucher disease is mediated by T cells via TNF-α
(Elsevier Science, 2012-11)
Gaucher disease is a lysosomal storage disorder caused by deficiency of glucocerebrosidase enzymatic activity leading to accumulation of its substrate glucocerebrosidase mainly in macrophages. Skeletal disorder of Gaucher ...
Gaucher disease: a case studyEnfermedad de Gaucher: estudio de caso
(Facultad de Medicina, 2017)
In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase
(Elsevier Science Inc, 2017-10)
Gaucher disease (GD) is caused by mutations on the gene encoding for the lysosomal enzyme glucocerebrosidase. Type I GD (GD1) patients present anemia, hepatosplenomegaly and bone alterations. In spite of treatment, bone ...