Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
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DOI: 10.1002/ajh.26276
Abstract: Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher disease type 1. In the Phase 3 ENGAGE trial of previously untreated adults with Gaucher disease type 1, eliglustat‐treated patients had statistically… read more here.
Keywords: disease type; engage trial; gaucher disease; disease ... See more keywords
Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry
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DOI: 10.1002/ajh.26675
Abstract: There are numerous reports of cancers in Gaucher disease (GD) from mostly small single‐center studies; however, precise risk estimates and cancer types involved have not been delineated. We conducted a study involving 2123 patients with… read more here.
Keywords: group gaucher; risk; gaucher group; gaucher disease ... See more keywords
Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation
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DOI: 10.1002/jbmr.3121
Abstract: Gaucher disease (GD), one of the most common lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta‐glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if… read more here.
Keywords: patients type; gaucher disease; microindentation; bone ... See more keywords
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia
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DOI: 10.1007/s12185-018-2559-3
Abstract: Gaucher disease (GD) is caused by a hereditary deficiency of glucocerebrosidase, resulting in accumulation of glucosylceramide and potentially manifesting as hepatosplenomegaly. We report the case of a 15-month-old boy with chronic neuronopathic GD. The patient… read more here.
Keywords: microcytic hypochromic; hypochromic anemia; anemia; gaucher disease ... See more keywords
Who seeks finds. Gaucher’s disease: a rare case of thrombocytopenia
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DOI: 10.1007/s12185-020-02824-x
Abstract: In July 2019, a 68-year-old man was admitted to our institution for isolated thrombocytopenia (platelet count, 73 × 109/L) without anemia or abnormalities in white blood cells. The patient also referred bone pain. Standard exams… read more here.
Keywords: disease rare; gaucher disease; gaucher cells; seeks finds ... See more keywords
Vascular endothelial growth factor (VEGF), tissue inhibitors of metalloproteinase-1 (TIMP-1) and nail fold capillaroscopy changes in children and adolescents with Gaucher disease; relation to residual disease severity.
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DOI: 10.1016/j.cyto.2020.155120
Abstract: BACKGROUND Gaucher disease (GD) is caused by functional defects of the acid β-glucocerebrosidase enzyme, with accumulation of glucosylceramide in the macrophage lineage lysosomes causing multisystem abnormalities. However, some GD manifestations can't be explained by Gaucher-cells… read more here.
Keywords: vegf; gaucher disease; disease; timp ... See more keywords
An unexpected player in Gaucher disease: The multiple roles of complement in disease development.
Sign Up to like & getrecommendations! Published in 2018 at "Seminars in immunology"
DOI: 10.1016/j.smim.2018.02.006
Abstract: The complement system is well appreciated for its role as an important effector of innate immunity that is activated by the classical, lectin or alternative pathway. C5a is one important mediator of the system that… read more here.
Keywords: player gaucher; gaucher disease; disease multiple; disease ... See more keywords
Altered Differentiation Potential of Gaucher’s Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation
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DOI: 10.1016/j.stemcr.2017.10.029
Abstract: Summary Gaucher’s disease (GD) is an autosomal recessive disorder caused by mutations in the GBA1 gene, which encodes acid β-glucocerebrosidase (GCase). Severe GBA1 mutations cause neuropathology that manifests soon after birth, suggesting that GCase deficiency… read more here.
Keywords: gcase; gaucher disease; wnt catenin; downregulation ... See more keywords
Gene expression with corresponding pathways analysis in Gaucher disease.
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DOI: 10.1016/j.yexmp.2021.104679
Abstract: Gaucher disease (GD) caused by mutation in the GBA gene has a wide spectrum of phenotypes. Besides the storage disorder, secondary alteration of various pathways occurs with modification of the expression of many genes. In… read more here.
Keywords: gaucher disease; analysis; gene expression; expression ... See more keywords
Gaucher disease: Progress and ongoing challenges.
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DOI: 10.1016/j.ymgme.2016.11.006
Abstract: Over the past decades, tremendous progress has been made in the field of Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the colossal achievements took place during the course of the… read more here.
Keywords: disease progress; progress; gaucher disease; progress ongoing ... See more keywords
Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen.
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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