Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 1 to 20 of 29

1.

Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.

Chauhan V, Kumar RV, Mahesh DM, Kashyap R, Thakur S.

J Assoc Physicians India. 2013 May;61(5):346-8.

PMID:
24482953
[PubMed - indexed for MEDLINE]
2.

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]
3.

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]
4.

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]
5.

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]
6.

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]
7.

A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients.

Lecourt S, Mouly E, Freida D, Cras A, Ceccaldi R, Heraoui D, Chomienne C, Marolleau JP, Arnulf B, Porcher R, Caillaud C, Vanneaux V, Belmatoug N, Larghero J.

PLoS One. 2013 Jul 25;8(7):e69293. doi: 10.1371/journal.pone.0069293. Print 2013.

PMID:
23935976
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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]
9.

Response to the letter: allogeneic hematopoietic stem cell transplantation for treatment of Gaucher disease.

Ito S, Barrett AJ.

Pediatr Hematol Oncol. 2013 Aug;30(5):462-3. doi: 10.3109/08880018.2013.793758. No abstract available.

PMID:
23848391
[PubMed - indexed for MEDLINE]
10.

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]
11.

Histologic findings of femoral heads from patients with Gaucher disease treated with enzyme replacement.

Lebel E, Elstein D, Peleg A, Reinus C, Zimran A, Amir G.

Am J Clin Pathol. 2013 Jul;140(1):91-6. doi: 10.1309/AJCPFVSAEGO67NGT.

PMID:
23765538
[PubMed - indexed for MEDLINE]
12.

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]
13.

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]
14.

Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease.

Osellame LD, Rahim AA, Hargreaves IP, Gegg ME, Richard-Londt A, Brandner S, Waddington SN, Schapira AH, Duchen MR.

Cell Metab. 2013 Jun 4;17(6):941-53. doi: 10.1016/j.cmet.2013.04.014. Epub 2013 May 23.

PMID:
23707074
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study.

Kuter DJ, Mehta A, Hollak CE, Giraldo P, Hughes D, Belmatoug N, Brand M, Muller A, Schaaf B, Giorgino R, Zimran A.

Blood Cells Mol Dis. 2013 Aug;51(2):116-24. doi: 10.1016/j.bcmd.2013.04.005. Epub 2013 May 14.

PMID:
23683771
[PubMed - indexed for MEDLINE]
16.

Predicting parkinsonism: new opportunities from Gaucher disease.

Lopez G, Sidransky E.

Mol Genet Metab. 2013 Jul;109(3):235-6. doi: 10.1016/j.ymgme.2013.04.012. Epub 2013 Apr 23. No abstract available.

PMID:
23665160
[PubMed - indexed for MEDLINE]
17.

Allogeneic hematopoietic stem cell transplantation for treatment of Gaucher disease.

Machaczka M.

Pediatr Hematol Oncol. 2013 Aug;30(5):459-61. doi: 10.3109/08880018.2013.793757. Epub 2013 May 7.

PMID:
23647506
[PubMed - indexed for MEDLINE]
18.

Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.

Sanders A, Hemmelgarn H, Melrose HL, Hein L, Fuller M, Clarke LA.

Blood Cells Mol Dis. 2013 Aug;51(2):109-15. doi: 10.1016/j.bcmd.2013.03.006. Epub 2013 Apr 30.

PMID:
23642305
[PubMed - indexed for MEDLINE]
19.

Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.

McNeill A, Roberti G, Lascaratos G, Hughes D, Mehta A, Garway-Heath DF, Schapira AH.

Mol Genet Metab. 2013 Jun;109(2):221-3. doi: 10.1016/j.ymgme.2013.04.001. Epub 2013 Apr 10.

PMID:
23639447
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Corneal manifestations and in vivo confocal microscopy of Gaucher disease.

Geens S, Kestelyn P, Claerhout I.

Cornea. 2013 Jul;32(7):e169-72. doi: 10.1097/ICO.0b013e31828d6d81.

PMID:
23635853
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk