Buscar
Mostrando ítems 1-10 de 525
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 ...
Bone diseases: Current approach and future perspectives in drug delivery systems for bone targeted therapeutics
(Multidisciplinary Digital Publishing Institute AG, 2020-05-01)
Bone diseases include a wide group of skeletal-related disorders that cause mobility limitations and mortality. In some cases, e.g., in osteosarcoma (OS) and metastatic bone cancer, current treatments are not fully effective, ...
Unusual endosteally formed bone tissue in a patagonian basal Sauropodomorph dinosaur
(Wiley, 2014-08)
Mussaurus patagonicus (Dinosauria: Sauropodomorpha) is a basal sauropodomorph from the Late Triassic of southern Argentina that is known from a large number of individuals, including juveniles, subadults, and adults. Here, ...
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 ...
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 ...
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 ...
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 ...