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Results: 19

1.

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M.

Proc Natl Acad Sci U S A. 2014 Apr 1;111(13):4934-9. doi: 10.1073/pnas.1400768111. Epub 2014 Mar 17.

PMID:
24639522
[PubMed - indexed for MEDLINE]
2.

Gaucher disease and myelodysplastic syndrome with isolated del(5q).

Villarrubia J, Rodríguez-Gambarte JD, Abalo L, Vallés A, Alonso-Domínguez JM, Velasco-Rodríguez D.

Br J Haematol. 2014 Apr;165(2):164. doi: 10.1111/bjh.12798. Epub 2014 Feb 24. No abstract available.

PMID:
24611589
[PubMed - indexed for MEDLINE]
3.

Gaucher disease: haematological presentations and complications.

Thomas AS, Mehta A, Hughes DA.

Br J Haematol. 2014 May;165(4):427-40. doi: 10.1111/bjh.12804. Epub 2014 Mar 3. Review.

PMID:
24588457
[PubMed - indexed for MEDLINE]
4.

Treatment for LSDs: no longer just enzyme replacement therapy for Gaucher disease. Foreword.

Cohen IJ, Baris H, Mistry PK.

Pediatr Endocrinol Rev. 2013 Nov;11 Suppl 1:58. No abstract available.

PMID:
24380122
[PubMed - indexed for MEDLINE]
5.

Resolution of thrombocytopenia with JAK2 mutation in a patient with Gaucher disease.

Amato D, Wang C.

Blood. 2013 Dec 19;122(26):4287-8. doi: 10.1182/blood-2013-08-524447. No abstract available.

PMID:
24357712
[PubMed - indexed for MEDLINE]
6.

Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones.

Yang C, Swallows CL, Zhang C, Lu J, Xiao H, Brady RO, Zhuang Z.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):249-54. doi: 10.1073/pnas.1321341111. Epub 2013 Dec 18.

PMID:
24351928
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Gaucher disease and its treatment options.

Bennett LL, Mohan D.

Ann Pharmacother. 2013 Sep;47(9):1182-93. doi: 10.1177/1060028013500469. Review.

PMID:
24259734
[PubMed - indexed for MEDLINE]
8.

Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses.

Ferraz MJ, Kallemeijn WW, Mirzaian M, Herrera Moro D, Marques A, Wisse P, Boot RG, Willems LI, Overkleeft HS, Aerts JM.

Biochim Biophys Acta. 2014 May;1841(5):811-25. doi: 10.1016/j.bbalip.2013.11.004. Epub 2013 Nov 13. Review.

PMID:
24239767
[PubMed - indexed for MEDLINE]
9.

Hypercoagulability, parkinsonism, and Gaucher disease.

Rosenbaum H, Aharon-Peretz J, Brenner B.

Semin Thromb Hemost. 2013 Nov;39(8):928-34. doi: 10.1055/s-0033-1357485. Epub 2013 Oct 15. Review.

PMID:
24129683
[PubMed - indexed for MEDLINE]
10.

Unfolded protein response in Gaucher disease: from human to Drosophila.

Maor G, Rencus-Lazar S, Filocamo M, Steller H, Segal D, Horowitz M.

Orphanet J Rare Dis. 2013 Sep 11;8:140. doi: 10.1186/1750-1172-8-140.

PMID:
24020503
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Gaucher disease with pathological femoral neck fracture.

Binnetoglu E, Komurcu E, Sen H, Kizildag B.

BMJ Case Rep. 2013 Aug 30;2013. pii: bcr2013200260. doi: 10.1136/bcr-2013-200260.

PMID:
23997081
[PubMed - indexed for MEDLINE]
12.

99mTc-sestamibi scintigraphy to monitor the long-term efficacy of enzyme replacement therapy on bone marrow infiltration in patients with Gaucher disease.

Erba PA, Minichilli F, Giona F, Linari S, Dambrosia J, Pierini A, Filocamo M, Di Rocco M, Buffoni F, Brady RO, Mariani G.

J Nucl Med. 2013 Oct;54(10):1717-24. doi: 10.2967/jnumed.113.121871. Epub 2013 Aug 29.

PMID:
23990684
[PubMed - indexed for MEDLINE]
13.

Progression of retinal changes in Gaucher disease: a case report.

Coussa RG, Roos JC, Aroichane M, Miron MC, Ospina LH.

Eye (Lond). 2013 Nov;27(11):1331-3. doi: 10.1038/eye.2013.180. Epub 2013 Aug 23. No abstract available.

PMID:
23970031
[PubMed - indexed for MEDLINE]
14.

Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

Alfonso P, Navascués J, Navarro S, Medina P, Bolado-Carrancio A, Andreu V, Irún P, Rodríguez-Rey JC, Pocoví M, España F, Giraldo P.

Hum Mutat. 2013 Oct;34(10):1396-403. doi: 10.1002/humu.22381. Epub 2013 Aug 13.

PMID:
23913449
[PubMed - indexed for MEDLINE]
15.

Rapid modifications of N-substitution in iminosugars: development of new β-glucocerebrosidase inhibitors and pharmacological chaperones for Gaucher disease.

Cheng WC, Weng CY, Yun WY, Chang SY, Lin YC, Tsai FJ, Huang FY, Chen YR.

Bioorg Med Chem. 2013 Sep 1;21(17):5021-8. doi: 10.1016/j.bmc.2013.06.054. Epub 2013 Jul 2.

PMID:
23880081
[PubMed - indexed for MEDLINE]
16.

Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1.

Zhou Y, Kraemer RR, Peker D, Wakefield DN, de Idiaquez Bakula DA.

Am J Hematol. 2013 Oct;88(10):922-3. doi: 10.1002/ajh.23537. Epub 2013 Aug 1. No abstract available.

PMID:
23828321
[PubMed - indexed for MEDLINE]
17.

Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.

Böttcher T, Rolfs A, Meyer B, Grossmann A, Berg D, Kropp P, Benecke R, Walter U.

J Neurol. 2013 Oct;260(10):2523-31. doi: 10.1007/s00415-013-7011-2. Epub 2013 Jun 29.

PMID:
23811968
[PubMed - indexed for MEDLINE]
18.

A common and two novel GBA mutations in Thai patients with Gaucher disease.

Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K, Shotelersuk V.

J Hum Genet. 2013 Sep;58(9):594-9. doi: 10.1038/jhg.2013.60. Epub 2013 May 30.

PMID:
23719189
[PubMed - indexed for MEDLINE]
19.

Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease.

Reed M, Baker RJ, Mehta AB, Hughes DA.

Blood Cells Mol Dis. 2013 Oct;51(3):185-94. doi: 10.1016/j.bcmd.2013.04.006. Epub 2013 May 23.

PMID:
23707505
[PubMed - indexed for MEDLINE]

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