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309 results

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Page 1
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
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 MG. Stirnemann J, et al. Int J Mol Sci. 2017 Feb 17;18(2):441. doi: 10.3390/ijms18020441. Int J Mol Sci. 2017. PMID: 28218669 Free PMC article. Review.
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. ...Type-1 Gaucher
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal
[Gaucher disease: A review].
Nguyen Y, Stirnemann J, Belmatoug N. Nguyen Y, et al. Rev Med Interne. 2019 May;40(5):313-322. doi: 10.1016/j.revmed.2018.11.012. Epub 2019 Jan 11. Rev Med Interne. 2019. PMID: 30638965 Review. French.
In the general population, its incidence varies between 0.4 and 5.8/100,000 inhabitants. Type 1 Gaucher disease is the most frequent and is characterized by its extreme heterogeneity including asymptomatic or more severe presentations. ...Specific treatment, …
In the general population, its incidence varies between 0.4 and 5.8/100,000 inhabitants. Type 1 Gaucher disease is the …
Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Nat Rev Dis Primers. 2018. PMID: 30275469 Review.
Several LSDs can be treated with approved, disease-specific therapies that are mostly based on enzyme replacement. However, small-molecule therapies, including substrate reduction and chaperone therapies, have also been developed and are approved for some LSDs, whereas gen …
Several LSDs can be treated with approved, disease-specific therapies that are mostly based on enzyme replacement. However, small-mol …
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C. Weinreb NJ, et al. Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9. Mol Genet Metab. 2022. PMID: 35367141 Free article. Review.
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and is associated with damage to multiple organ systems. Many challenges associated with GD diagnosis and management arise from the consi
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childho
Soluble CD163.
Møller HJ. Møller HJ. Scand J Clin Lab Invest. 2012 Feb;72(1):1-13. doi: 10.3109/00365513.2011.626868. Epub 2011 Nov 7. Scand J Clin Lab Invest. 2012. PMID: 22060747 Review.
It is now evident that sCD163 is very useful as a biomarker of macrophage activation in various inflammatory diseases, such as macrophage activation syndrome, sepsis, and liver disease. Moreover, sCD163 is a general risk marker of comorbidity and mortality in several chron …
It is now evident that sCD163 is very useful as a biomarker of macrophage activation in various inflammatory diseases, such as macrophage ac …
Progressive Myoclonus Epilepsies.
Kälviäinen R. Kälviäinen R. Semin Neurol. 2015 Jun;35(3):293-9. doi: 10.1055/s-0035-1552620. Epub 2015 Jun 10. Semin Neurol. 2015. PMID: 26060909 Review.
The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosi …
The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal cero …
Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.
Kałużna M, Trzeciak I, Ziemnicka K, Machaczka M, Ruchała M. Kałużna M, et al. Orphanet J Rare Dis. 2019 Dec 2;14(1):275. doi: 10.1186/s13023-019-1211-5. Orphanet J Rare Dis. 2019. PMID: 31791361 Free PMC article. Review.
BACKGROUND: Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and metabolic abnormalities, including nutritional status disorders, hypermetabolic state with high resting energy expenditures, peripheral insul …
BACKGROUND: Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and m …
Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist.
Carubbi F, Cappellini MD, Fargion S, Fracanzani AL, Nascimbeni F. Carubbi F, et al. Dig Liver Dis. 2020 Apr;52(4):368-373. doi: 10.1016/j.dld.2020.01.004. Epub 2020 Feb 11. Dig Liver Dis. 2020. PMID: 32057684 Review.
Gaucher disease (GD), a rare lysosomal storage disorder caused by deficient glucocerebrosidase activity and consequent accumulation of glycosphingolipids in the mononuclear phagocyte system, may progress to disabling and potentially life-threatening complications wh
Gaucher disease (GD), a rare lysosomal storage disorder caused by deficient glucocerebrosidase activity and consequent accumul
Eliglustat: A Review in Gaucher Disease Type 1.
Scott LJ. Scott LJ. Drugs. 2015 Sep;75(14):1669-78. doi: 10.1007/s40265-015-0468-9. Drugs. 2015. PMID: 26384672 Review.
Oral eliglustat (Cerdelga) is approved in several countries for the long-term treatment of adults with Gaucher disease type 1 (GD1) who are cytochrome P450 (CYP) 2D6 extensive metabolizers (EMs), intermediate metabolizer (IMs) or poor metabolizers (PMs) [thes …
Oral eliglustat (Cerdelga) is approved in several countries for the long-term treatment of adults with Gaucher disease type
Lyso-glycosphingolipids: presence and consequences.
van Eijk M, Ferraz MJ, Boot RG, Aerts JMFG. van Eijk M, et al. Essays Biochem. 2020 Sep 23;64(3):565-578. doi: 10.1042/EBC20190090. Essays Biochem. 2020. PMID: 32808655 Free PMC article. Review.
Deacylation of accumulating glycosphingolipids drives the formation of lyso-glycosphingolipids. In lysosomal storage diseases such as Gaucher Disease, Fabry Disease, Krabbe disease, GM1 -and GM2 gangliosidosis, Niemann Pick type C and Metachroma …
Deacylation of accumulating glycosphingolipids drives the formation of lyso-glycosphingolipids. In lysosomal storage diseases such as Gau
309 results