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A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina
(Springer, 2019-02-21)
Gaucher disease (GD) is the most prevalent lysosomal storage disease, and bone involvement is the most disabling condition. The aim of the present study was to evaluate bone involvement in adult patients with GD, using an ...
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 ...
Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease
(Public Library of Science, 2019-05-31)
Gaucher and Fabry diseases are the most prevalent sphingolipidoses. Chronic inflammation is activated in those disorders, which could play a role in pathogenesis. Significant degrees of amelioration occur in patients upon ...
Bone symptoms can be an early manifestation of Gaucher disease implications for diagnosis
(Elsevier, 2020-07)
Gaucher disease (GD) is caused by mutations in the gene GBA1, which encodes for the synthesis of the enzyme lysosomal glucocerebrosidase (GCase). Lack or deficiency of GCase activity causes accumulation of glucosylceramide ...
Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease
(Molecular Diversity Preservation International, 2017-01)
Gaucher disease (GD) is caused by mutations in the glucosylceramidase β (GBA 1) gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to the accumulation of the glycolipid ...
Osteocyte alterations induce osteoclastogenesis in an in vitro model of gaucher disease
(MDPI AG, 2017-01)
Gaucher disease (GD) is caused by mutations in the glucosylceramidase β (GBA 1) gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to the accumulation of the glycolipid ...
Enfermedad de Gaucher, un abordaje terapéutico moderno
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2001-08-01)
Revised recommendations for the management of Gaucher disease in children
(Springer, 2013-04-01)
Gaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major phenotypes are recognized: non-neuropathic ...
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 ...