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Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology
(Academic Press Inc Elsevier Science, 2015-05)
Gaucher disease (GD) is caused by mutations in the GBA gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to the accumulation of the glycolipid glucocerebroside in the ...
Uncoupling of osteoblast-osteoclast regulation in a chemical murine model of Gaucher disease
(Elsevier Science, 2013-10)
Gaucher disease (GD) is caused by mutations in the GBA gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to accumulation of the glycolipid glucocerebroside in the lysosomes ...
Doença de Gaucher: uma desordem subdiagnosticada
(Sociedade de Pediatria de São Paulo, 2011-03-01)
OBJECTIVE: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype. CASE DESCRIPTION: Patient at the age of three years and six months with ...
Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase
(Holzapfel Verlag, 2007-12)
Bone involvement is one of the most disabling complications in patients with type 1 Gaucher disease (GDI) and its pathophysiology is yet to be fully understood. It is well known that body composition is a determinant of ...
Intravenous bisphosphonate treatment and pregnancy: Its effects on mother and infant bone health
(Springer London Ltd, 2010-11)
Introduction: Type 1 Gaucher's disease (GD1) is a lysosomal storage disorder associated with disabling bone involvement. The choice treatment for Gaucher's disease is enzyme replacement therapy (ERT). The use of bisphosphonate ...
Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings
(BRITISH INST RADIOLOGYLONDON, 2012)
Objectives: A wide variety of manifestations is presented in patients with Gaucher's disease (GD), including bone, haematology and visceral disturbances. This study was conducted to ascertain the main maxillofacial ...
Proceso atención de enfermería en lactante mayor con enfermedad de gaucher tipo 2.
(Babahoyo: UTB-FCS, 2021, 2021)
Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis
(Academic Press Inc Elsevier Science, 2020-08)
Gaucher disease (GD) is caused by pathogenic mutations in GBA1, the gene that encodes the lysosomal enzyme β-glucocerebrosidase. Until now, treatments for GD cannot completely reverse bone problems. The aim of this work ...