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Items: 1 to 20 of 31

2.

Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.

Eblan MJ, Goker-Alpan O, Sidransky E.

Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. Review.

PMID:
16396828
3.

New perspectives in type 2 Gaucher disease.

Sidransky E.

Adv Pediatr. 1997;44:73-107. Review. No abstract available.

PMID:
9265968
4.

Gaucher disease: complexity in a "simple" disorder.

Sidransky E.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. Review.

PMID:
15464415
5.

Gaucher's disease: the best laid schemes of mice and men.

Sidransky E, Ginns EI.

Baillieres Clin Haematol. 1997 Dec;10(4):725-37. Review.

PMID:
9497860
6.

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.

Hum Mutat. 2000;15(2):181-8. Review.

PMID:
10649495
7.

The role of neurogenetics in Gaucher disease.

Brady RO, Barton NW, Grabowski GA.

Arch Neurol. 1993 Nov;50(11):1212-24. Review.

PMID:
8215980
8.

Type 2 gaucher disease: an expanding phenotype.

Tayebi N, Stone DL, Sidransky E.

Mol Genet Metab. 1999 Oct;68(2):209-19. Review. No abstract available.

PMID:
10527671
9.

[From gene to disease; Gaucher disease].

Hollak CE, Boot RG, Poorthuis BJ, Aerts JM.

Ned Tijdschr Geneeskd. 2005 Sep 24;149(39):2163-6. Review. Dutch.

PMID:
16223076
10.

Gaucher disease.

Guggenbuhl P, Grosbois B, Chal├Ęs G.

Joint Bone Spine. 2008 Mar;75(2):116-24. Review.

PMID:
17996473
11.

Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.

Cox TM.

J Inherit Metab Dis. 2001;24 Suppl 2:106-21; discussion 87-8. Review.

PMID:
11758671
12.

[Gene therapy of Gaucher's and Fabry's diseases: current status and prospects].

Fabrega S, Lehn P.

J Soc Biol. 2002;196(2):175-81. Review. French.

PMID:
12360746
13.

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.

Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.

Blood Cells Mol Dis. 2007 May-Jun;38(3):287-93. Review.

PMID:
17196853
14.

[Gaucher disease: clinical, genetic and therapeutic aspects].

Germain DP.

Pathol Biol (Paris). 2004 Jul;52(6):343-50. Review. French.

PMID:
15261378
15.

Gaucher disease: new molecular approaches to diagnosis and treatment.

Beutler E.

Science. 1992 May 8;256(5058):794-9. Review.

PMID:
1589760
16.

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

Gupta N, Oppenheim IM, Kauvar EF, Tayebi N, Sidransky E.

Blood Cells Mol Dis. 2011 Jan 15;46(1):75-84. doi: 10.1016/j.bcmd.2010.08.012. Review.

17.

Gaucher disease.

Beutler E.

Curr Opin Hematol. 1997 Jan;4(1):19-23. Review.

PMID:
9050375
18.

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS, LaMarca ME, Scott CR, Sidransky E.

Hum Mutat. 2008 May;29(5):567-83. doi: 10.1002/humu.20676. Review.

PMID:
18338393
19.

[Molecular genetic approaches to neurologic diseases].

Tsuji S.

Rinsho Shinkeigaku. 1989 Dec;29(12):1550-3. Review. Japanese.

PMID:
2698300
20.

Mutations causing Gaucher disease.

Horowitz M, Zimran A.

Hum Mutat. 1994;3(1):1-11. Review.

PMID:
8118460

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