Results 21 to 30 of about 2,332 (156)
Neurobiology of Disease, 2019 Bi-allelic mutations in the glucocerebrosidase gene (GBA1) cause Gaucher's disease, the most common human lysosomal storage disease. We previously reported a marked increase in miR-155 transcript levels and early microglial activation in a zebrafish ...
Lisa Watson +9 more
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Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
Biomedicines, 2022 We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene.
Valerio Napolioni +13 more
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Педиатрическая фармакология, 2014 The article is dedicated to modern approaches to treatment of Gaucher’s disease. The authors list the primary aspects of the disease and present data on the origin and introduction of pathogenetic enzyme replacement therapy to clinical practice.
O. S. Gundobina +3 more
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Педиатрическая фармакология, 2014 The article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease.
O. S. Gundobina +2 more
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Gaucher's disease: Report of a case
Siriraj Medical Journal, 2023 The first adult case of Gaucher's disease in Thailand was reported. The diagnosis was based on hepatosplenomegaly and Gaucher's cells in the bone marrow without any evidence of leukaemia.
Vicharn Panich +2 more
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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
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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
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Journal of Clinical and Experimental Hepatology, 2014 Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neuronopathic form and type 2 and 3 are the neuronopathic forms.
openaire +2 more sources
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
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
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