Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2018.08.045
Abstract: Gaucher disease (GD) is a rare autosomal recessive disorder caused by deficient activity of β-glucocerebrosidase resulting in the accumulation of glucosylceramide. Bone disease is a common feature with radiological evidence in up to 93% of… read more here.
Keywords: gaucher; therapy; disease; generation ... See more keywords
Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2017.05.010
Abstract: Gaucher disease is a lysosomal storage disorder caused by a deficiency in glucocerebrosidase activity that leads to accumulation of glucosylceramide and glucosylsphingosine. Membrane raft microdomains are discrete, highly organized microdomains with a unique lipid composition… read more here.
Keywords: neuronopathic gaucher; gaucher; lipid composition; gaucher disease ... See more keywords
Pain and fatigue associated with generalized joint hypermobility in Gaucher disease
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism"
DOI: 10.1016/j.ymgme.2018.12.242
Abstract: Gaucher Disease (GD) is a lysosomal storage disease characterized by hepatosplenomegaly, pulmonary disease, fatigue, and bone pain and crises. While most physicians show primary concern with visceral and hematologic symptoms, patients report interest in decreasing… read more here.
Keywords: fatigue; pain; levels pain; disease ... See more keywords
A Letter from Brian Berman, President, National Gaucher Foundation
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2016.10.005
Abstract: On June 13, Dr. Roscoe Brady, a scientific legend, passed away, but his legacy lives on in all of us. He had a profound impact on countless people, both through his work and through his… read more here.
Keywords: gaucher; national gaucher; gaucher disease; gaucher foundation ... See more keywords
A case of motor neuron involvement in Gaucher disease
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100540
Abstract: Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD… read more here.
Keywords: gaucher; gaucher disease; neuron involvement; motor neuron ... See more keywords
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.159
Abstract: Purpose:The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort.Methods:The cohort includes children… read more here.
Keywords: carrier screening; gaucher; children diagnosed; gaucher disease ... See more keywords
Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Hematology and Oncology"
DOI: 10.1080/08880018.2022.2124006
Abstract: Abstract This case reports concomitant use of enzyme and substrate reduction therapy to improve chemotherapy adherence in a pediatric patient diagnosed with Ewing sarcoma (ES) and type 1 Gaucher disease (GD). The 17-year-old female presented… read more here.
Keywords: oncology; gaucher; ewing sarcoma; therapy ... See more keywords
Gaucher disease - bone involvement.
Sign Up to like & getrecommendations! Published in 2021 at "Medicine and pharmacy reports"
DOI: 10.15386/mpr-2233
Abstract: Gaucher disease (GD) is a rare genetic disease caused by the enzymatic deficiency of beta-glucocerebrosidase. This will lead to the accumulation of sphingolipids in various organs, such as liver, spleen, bone marrow. Bone involvement is… read more here.
Keywords: bone; gaucher; bone involvement; gaucher disease ... See more keywords
Images from the Haematologica Atlas of Hematologic Cytology: Gaucher disease
Sign Up to like & getrecommendations! Published in 2022 at "Haematologica"
DOI: 10.3324/haematol.2022.281777
Abstract: Gaucher disease is an inherited lysosomal storage disease characterized by the accumulation of glucocerebrosides (glu-cosylceramide), in macrophages of liver, spleen, and bone marrow. This metabolic disorder results from a defect in the lysosomal β -glucocerebrosidase… read more here.
Keywords: gaucher cells; gaucher; bone marrow; cytology ... See more keywords
Glitazone Treatment Rescues Phenotypic Deficits in a Fly Model of Gaucher/Parkinson’s Disease
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms222312740
Abstract: Parkinson’s Disease (PD) is the most common movement disorder, and the strongest genetic risk factor for PD is mutations in the glucocerebrosidase gene (GBA). Mutations in GBA also lead to the development of Gaucher Disease… read more here.
Keywords: treatment; disease; parkinson disease; fly model ... See more keywords
Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23147640
Abstract: Gaucher disease (GD) is caused by glucocerebrosidase deficiency leading to the accumulation of sphingolipids in macrophages named “Gaucher’s Cells”. These cells are characterized by deregulated expression of cell surface markers, abnormal secretion of inflammatory cytokines,… read more here.
Keywords: gaucher patients; gaucher cells; gaucher; phagocytosis erythrocytes ... See more keywords