Gaucher disease
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
... of Gaucher disease have been ...the disease, is characterized by the appearance of several neurologic features, in addition to the severe hepatosplenomegaly, type 3, the subacute neuronopathic form ...
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Chronic pain in Gaucher disease: skeletal or neuropathic origin?
... of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement ...bone disease without a clear ...in Gaucher type 1 ...
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Progranulin Recruits HSP70 to beta-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease
... Since overexpression of Pcgin signi fi cantly reduced lysosomal stor- age in type 2 GD fi broblasts (L444P) (Fig. 5e, f), we next examined the therapeutic effects of recombinant Pcgin in GD fi broblasts. Similar to PGRN, ...
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Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease
... of Gaucher disease type 1 ...neuronopathic disease accounting for 95% of GD cases; and types 2 and 3 (GD2 GD3) which are more progressive diseases with no approved drugs available at this ...
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Sphingolipids: the nexus between Gaucher disease and insulin resistance
... Fabry disease, where the lysosomal accumula- tion of ceramide trihexoside manifests as acroparesthesias, angiokeratoma and occlusive vascular disease of the kid- ney, heart or brain, compared with ...
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Profile of eliglustat tartrate in the management of Gaucher disease
... Gaucher disease (GD; OMIM: 230,800, 230,900, and 231,000) is the most common autosomal recessive lysosomal disorder, first described by Philippe Gaucher in ...
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Replacement Therapy for Gaucher Disease during Pregnancy: A Case Report
... of Gaucher cells in bone marrow as- ...of disease (chitotriosidase, acid phos- phatase, and angiotensin-1-converting enzyme) improved, and liver volumes ...for Gaucher disease and amniotic ...
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Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
... estimating disease severity and track- ing treatment ...in Gaucher disease ...in Gaucher disease and shows good concordance with Dixon-based methods [92, 131], although acquisition ...
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Review of the safety and efficacy of imiglucerase treatment of Gaucher disease
... of Gaucher disease, and that these gradually (2 to 5 years) improve with exposure to ERT so that near-normalization of many parameters is possible, although some parameters or perhaps some segment of the ...
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Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1
... Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 ...s disease (PD) is the second most common neurodegenerative ...
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High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease
... Gaucher disease is due to mutations involving the glucocerebrosidase gene. A closely homologous pseudogene is located approximately 16 kD downstream from the functional gene. Sequence analysis of clones ...
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Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease
... called Gaucher cells, that act as the starting point of patho- physiological processes resulting in clinical ...of Gaucher disease is heterogeneous with respect to age, nature, and progression of ...
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The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease
... the Gaucher Disease type I severity scoring system (GD-DS3), which focuses on bone, hematologic, and visceral ...of disease complications. Biomarkers are proteins that arise from Gaucher ...
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Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review
... GD: Gaucher disease; GD1: GD type 1; GH: Growth hormone; GHD: Growth hormone deficiency; GM3: Glycosphingolipid GM3; GR: Growth retardation; HDL-C: High-density lipoprotein cholesterol; HMW: High – ...
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Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report
... the disease, features severe neurological involve- ment and early mortality, usually by the age of 2 years, and GD type 3 (GD3) is characterized by a later onset of neurological symptoms and a more protracted ...
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Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease
... for Gaucher disease can effectively reduce the incidence of splenectomy and bone compli- cations, and will most likely result in a reduction in the risk of developing malignancies (van Dussen L, ...
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Management of Neutralizing Antibody to Ceredase in a Patient With Type 3 Gaucher Disease
... with Gaucher disease who are treated with Ceredase develop a neutralizing antibody to the exogenous ...100/6/e11; Gaucher disease, neutralizing antibody, Cere- ...
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Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
... the disease according to the ...International Gaucher Registry (the ICGG Registry) ...Spanish Gaucher Disease Registry data published 10 years ago, we can see a shift toward diag- nosis at ...
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Enzyme Replacement Therapy for Gaucher Disease: The Only Experience in Malaysia
... Enzyme Replacement Therapy for Gaucher Disease The Only Experience in Malaysia CASE REPORT Enzyme Replacement Therapy for Gaucher Disease The Only Experience in Malaysia L L Chan, FRCP, H P Lin, FRCP[.] ...
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Bone events and evolution of biologic markers in Gaucher disease before and during treatment
... Gaucher disease (GD), a rare autosomal-recessive disor- der with an approximate prevalence of 1/75,000 live births worldwide, is due to the deficiency of a lysosomal enzyme (glucocerebrosidase, ...
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