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Articles tagged with Gaucher disease
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Rapid intravenous enzyme infusion
In the latest issue of American Journal of Hematology, we have published results of recent collaborative study on development of enzyme replacement therapies in Gaucher disease type 1. Together with colleagues from University Rostock, Israel and Australia, we tested effects of rapid intravenous…
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Lysosomal storage diseases (LSD) panel
Lysosomal storage diseases (LSD) are a heterogeneous group of inherited disorders characterized by the accumulation of partially digested or undigested macromolecules in cells, due to the absence of different lysosomal enzymes, which ultimately results in cellular dysfunction and clinical…
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Glucosylsphingosine is a reliable response biomarker
Perusing our research quest for selective and specific biomarkers we have designed and performed a research study involving potential biomarkers for Gaucher disease and we have identified a glucosylsphingosine as a reliable responsible biomarker for this disease.
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Gaucher disease
Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. The disorder results from the deficiency of the enzyme glucocerebrosidase. The prevalence of GD is approximately 1 in 57,000 to 1 in 75,000 worldwide but the…
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Glucosylsphingosine causes hematological and visceral changes in mice
Glucosylceramide and glucosylsphingosine are the two major storage products in Gaucher disease (GD), an inherited metabolic disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The pathological role of the deacylated form of glucosylceramide, glucosylsphingosine (lyso-Gb1), a…
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Glucosylsphingosine (lyso-Gb1) plays a central role in the diagnosis and proper assessment of disease severity in Gaucher patients
We have developed and systematically validated a high-throughput workflow for the simple testing of GD patients: beta-glucocerebrosidase enzymatic activity, glycosylsphingosine (lyso-Gb1) quantification in DBS followed by GBA gene sequencing from the sample blood sample. We report data from over 940…
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CentoMD®: Genetic variants-related biomarker knowledge database
CentoMD® is a browser-based tool that enables access to a high-quality repository of genetic, biochemical and human phenotype ontology (HPO)-based clinical information. All patients provided informed consent before inclusion in the DB.
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Reductions in glucosylsphingosine
Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. Lyso-Gb1 (glucosylsphingosine,lyso-GL1), a downstream metabolic product of glucosylceramide, has been…
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Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study.
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LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Gaucher disease is an autosomal recessive inherited lysosomal storage disorder. The disease is caused by the hereditary deficiency of the glucocerebrosidase, a lysosomal enzyme that breaks down glucocerebroside into glucose and ceramide. Gaucher disease is the most common sphingolipidosis and it is…
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Plasma Glucosylsphingosine: a specific and sensitive biomarker for the primary diagnostic and follow-up in patients with gaucher disease
Here, we determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease (GD), where a defect in the beta-Glucosidase (GBA) gene leads to the accumulation of glucosylceramide.
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Glucosylsphingosine is a highly sensitive and specific biomarker in Gaucher Disease
Only GD patients displayed elevated levels of Glucosylsphingosine higher than 12 ng/ml whereas the comparison controls groups revealed concentrations below the pathological cut-off, verifying the specificity of Glucosylsphingosine as a biomarker for GD. In addition, we evaluated the biomarker before…
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Clinical, genetic, and brain sonographic features related to Parkinson’s disease in Gaucher disease
Here we studied how clinical, genetic, and brain sonographic findings relate to the occurrence of PD in Gaucher disease. We conclude that the combined clinical, genetic, and transcranial sonographic assessment may improve the PD risk evaluation in Gaucher disease.
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Glucocerebrosidase mutations in a Serbian Parkinson’s disease population
Gaucher disease (GD) is caused by homozygous or compound heterozygous mutations in the b-glucocerebrosidase (GBA) gene. GBA mutations can be classified according to phenotypic effects as mild (associated with ‘non-neuronopathic’ Type 1 GD) and severe or null (neuronopathic Type 2 or 3…
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Newborn screening for lysosomal storage disorders in Hungary
Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be 1:4,000. Overall, we conclude that screening for LSDs by tandem MS/MS followed by a genetic workup in…
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BioGaucher - Biomarker for Gaucher disease
The goal of the study is to validate this new biochemical marker from the plasma of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.