The DOI matches its Crossref record; 151 of the 151 references it cites were found in a registry or an index.
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
Open accessAbstract
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat).
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Citations
Cites
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Cited by
GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches
Riboldi, G. M., & Di Fonzo, A. B. (2019) · Cells · doi:10.3390/cells8040364 · Cited by 274
Glycosphingolipids and Neuroinflammation in Parkinson’s Disease
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Second-Generation Pharmacological Chaperones: Beyond Inhibitors
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Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1
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Metadata
- Authors
- Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., Brassier, A., Rose, C., Billette de Villemeur, T., & Berger, M.
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2017-02-17
- Volume
- 18
- Issue
- 2
- Pages
- 441
- ISSN
- 1422-0067 (ISSN-L)
- OpenAlex
- W2588291989
- Cited by
- 868
- References
- 151
- FWCI
- 36.74
- Type
- journal article
- Language
- en
- Open access
- gold
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- Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., Brassier, A., Rose, C., Billette de Villemeur, T., & Berger, M. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International Journal of Molecular Sciences. https://doi.org/10.3390/ijms18020441
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