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Results: 1 to 20 of 139

1.

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]
2.

The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?

Shayman JA.

Trans Am Clin Climatol Assoc. 2013;124:46-60. Review.

PMID:
23874009
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Immune responses to AAV vectors: overcoming barriers to successful gene therapy.

Mingozzi F, High KA.

Blood. 2013 Jul 4;122(1):23-36. doi: 10.1182/blood-2013-01-306647. Epub 2013 Apr 17. Review.

PMID:
23596044
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Lysosomal impairment in Parkinson's disease.

Dehay B, Martinez-Vicente M, Caldwell GA, Caldwell KA, Yue Z, Cookson MR, Klein C, Vila M, Bezard E.

Mov Disord. 2013 Jun;28(6):725-32. doi: 10.1002/mds.25462. Epub 2013 Apr 11. Review.

PMID:
23580333
[PubMed - indexed for MEDLINE]
5.

Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.

Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE.

Crit Rev Oncog. 2013;18(3):235-46. Review.

PMID:
23510066
[PubMed - indexed for MEDLINE]
6.

Gaucher disease: a comprehensive review.

Rosenbloom BE, Weinreb NJ.

Crit Rev Oncog. 2013;18(3):163-75. Review.

PMID:
23510062
[PubMed - indexed for MEDLINE]
7.

[Inborn errors of metabolism in adult neurology].

Sedel F.

Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S63-9. doi: 10.1016/S0035-3787(13)70062-6. Review. French.

PMID:
23452774
[PubMed - indexed for MEDLINE]
8.

Jaws features in Type 1 Gaucher disease.

Zeevi I, Anavi Y, Kaplan I, Zadik Y.

J Oral Maxillofac Surg. 2013 Apr;71(4):694-701. doi: 10.1016/j.joms.2012.09.020. Epub 2012 Dec 21. Review.

PMID:
23265852
[PubMed - indexed for MEDLINE]
9.

Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges.

Desnick RJ, Schuchman EH.

Annu Rev Genomics Hum Genet. 2012;13:307-35. doi: 10.1146/annurev-genom-090711-163739. Review.

PMID:
22970722
[PubMed - indexed for MEDLINE]
10.

Simultaneous detection of Gaucher's disease and renal involvement of non-Hodgkin's lymphoma: the first Asian case report and a review of literature.

Kim MJ, Suh JT, Lee HJ, Lee WI, Moon A, Lee J, Kang SH, Cho EH, Oh SH, Baek SK, Kim SY, Park TS.

Ann Clin Lab Sci. 2012 Summer;42(3):293-301. Review.

PMID:
22964618
[PubMed - indexed for MEDLINE]
11.

Miglustat as a therapeutic agent: prospects and caveats.

Venier RE, Igdoura SA.

J Med Genet. 2012 Sep;49(9):591-7. doi: 10.1136/jmedgenet-2012-101070. Epub 2012 Aug 14. Review.

PMID:
22892202
[PubMed - indexed for MEDLINE]
12.

Revised recommendations for the management of Gaucher disease in children.

Kaplan P, Baris H, De Meirleir L, Di Rocco M, El-Beshlawy A, Huemer M, Martins AM, Nascu I, Rohrbach M, Steinbach L, Cohen IJ.

Eur J Pediatr. 2013 Apr;172(4):447-58. doi: 10.1007/s00431-012-1771-z. Epub 2012 Jul 8. Review.

PMID:
22772880
[PubMed - indexed for MEDLINE]
13.

Gaucher disease and the synucleinopathies: refining the relationship.

Campbell TN, Choy FY.

Orphanet J Rare Dis. 2012 Jan 31;7:12. doi: 10.1186/1750-1172-7-12. Review.

PMID:
22289779
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Velaglucerase alfa for the management of type 1 Gaucher disease.

Morris JL.

Clin Ther. 2012 Feb;34(2):259-71. doi: 10.1016/j.clinthera.2011.12.017. Epub 2012 Jan 20. Review.

PMID:
22264444
[PubMed - indexed for MEDLINE]
15.

Soluble CD163.

Møller HJ.

Scand J Clin Lab Invest. 2012 Feb;72(1):1-13. doi: 10.3109/00365513.2011.626868. Epub 2011 Nov 7. Review.

PMID:
22060747
[PubMed - indexed for MEDLINE]
16.

Glycosphingolipids and insulin resistance.

Aerts JM, Boot RG, van Eijk M, Groener J, Bijl N, Lombardo E, Bietrix FM, Dekker N, Groen AK, Ottenhoff R, van Roomen C, Aten J, Serlie M, Langeveld M, Wennekes T, Overkleeft HS.

Adv Exp Med Biol. 2011;721:99-119. doi: 10.1007/978-1-4614-0650-1_7. Review.

PMID:
21910085
[PubMed - indexed for MEDLINE]
17.

Gastrointestinal disturbances and their management in miglustat-treated patients.

Belmatoug N, Burlina A, Giraldo P, Hendriksz CJ, Kuter DJ, Mengel E, Pastores GM.

J Inherit Metab Dis. 2011 Oct;34(5):991-1001. doi: 10.1007/s10545-011-9368-7. Epub 2011 Jul 21. Review.

PMID:
21779792
[PubMed - indexed for MEDLINE]
18.

Newborn screening for lysosomal storage disorders.

Nakamura K, Hattori K, Endo F.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):63-71. doi: 10.1002/ajmg.c.30291. Epub 2011 Feb 10. Review.

PMID:
21312327
[PubMed - indexed for MEDLINE]
19.

An overview on bone manifestations in Gaucher disease.

Mikosch P, Hughes D.

Wien Med Wochenschr. 2010 Dec;160(23-24):609-24. doi: 10.1007/s10354-010-0841-y. Review.

PMID:
21221913
[PubMed - indexed for MEDLINE]
20.

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

Mistry PK, Cappellini MD, Lukina E, Ozsan H, Mach Pascual S, Rosenbaum H, Helena Solano M, Spigelman Z, Villarrubia J, Watman NP, Massenkeil G.

Am J Hematol. 2011 Jan;86(1):110-5. doi: 10.1002/ajh.21888.

PMID:
21080341
[PubMed - indexed for MEDLINE]
Free PMC Article

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