Results 31 to 40 of about 2,490 (187)
Splenic lipids in Gaucher's disease
Journal of Lipid Research, 1968 Column chromatography (on cellulose, silicic acid, and Florisil) and thin-layer chromatography were employed for the separation and purification of lipid fractions from normal and Gaucher spleens.
N.G. Kennaway, L.I. Woolf
doaj +1 more source
Metabolic Changes Following Splenic Transplantation in a Case of Gaucher’s Disease
, 1972 The fact that the highest activity of glucocerebrosidase is normally found in the spleen (2) has suggested the possibility of splenic transplantation as a means of enzyme replacement in Gaucher’s disease (1).
Carl G. Groth +11 more
core +1 more source
Failure of treatment of Coxa Vara in Gauchers Disease: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2012 Gaucher’s disease (GD) is an autosomal recessive storage disorder which occurs due to the deficient functioning of the lysosomal hydrolase enzyme [1, 2]. In this case report, coxa vara occurred after the union of a stress fracture in the basicervical
Sachin Khullar +3 more
doaj
Journal of Lipid Research, 1987 The time course of the clearance from the blood and the tissue localization of [14C]L-glucosylceramide, a nonmetabolizable enantiomorph of D-glucosylceramide that accumulates in Gaucher's disease, has been determined.
T Tokoro, A E Gal, L L Gallo, R O Brady
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule +4 more
wiley +1 more source
Gaucher's disease with myocardial involvement in pregnancy
São Paulo Medical Journal, 2002 CONTEXT: Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of ...
Maria Regina Torloni +2 more
doaj +1 more source
Osteoarticular pathology in Gaucher disease, complicated by tuberculosis (clinical observations)
Гений oртопедии, 2022 Introduction Gaucher disease belongs to the group of hereditary lysosomal orphan cumulative diseases caused by deficiency of the β-glucocerebrosidase enzyme. It features polysystemic affection, including bone tissue. The osteoarticular system in Gaucher
Lyudmila A. Semenova +2 more
doaj +1 more source
Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease
American Journal of Hematology, EarlyView.ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain +10 more
wiley +1 more source
Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria
Nature Communications, 2023 β-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting α-synuclein aggregation and autophagy. Recently, Baden and colleagues found GCase in mitochondria, supporting mitochondrial complex I function and energy ...
Andrés D. Klein, Tiago Fleming Outeiro
doaj +1 more source
Advancing design strategies in smart stimulus‐responsive liposomes for drug release and nanomedicine
BMEMat, EarlyView.Schematic illustration of stimulus‐responsive liposomes designed for controlled drug release and nanomedicine. The innermost circle represents different liposomal structures, including unilamellar, multilamellar, and multivesicular liposomes. The middle layer illustrates the responsive phospholipid components.
Yuchen Guo +9 more
wiley +1 more source