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Items: 1 to 20 of 39

1.

Global gene expression in a type 2 Gaucher disease brain.

Myerowitz R, Mizukami H, Richardson KL, Finn LS, Tifft CJ, Proia RL.

Mol Genet Metab. 2004 Dec;83(4):288-96.

PMID:
15589115
2.

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
3.

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. Epub 2006 Dec 29. Review.

PMID:
17196853
4.

Gaucher disease.

Beutler E.

Blood Rev. 1988 Mar;2(1):59-70. Review.

PMID:
3289655
5.

Inherited lipid storage diseases of the central nervous system.

Percy AK, Shapiro LJ, Kaback MM.

Curr Probl Pediatr. 1979 Sep;9(11):1-51. Review. No abstract available.

PMID:
117977
6.

Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease.

Sawkar AR, D'Haeze W, Kelly JW.

Cell Mol Life Sci. 2006 May;63(10):1179-92. Review.

PMID:
16568247
7.

Gaucher disease: review of the literature.

Chen M, Wang J.

Arch Pathol Lab Med. 2008 May;132(5):851-3. doi: 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2. Review.

PMID:
18466035
8.

Basic findings and current developments in sphingolipidoses.

Pilz H, Heipertz R, Seidel D.

Hum Genet. 1979 Mar 12;47(2):113-34. Review.

PMID:
108196
9.

Gaucher disease.

Guggenbuhl P, Grosbois B, Chalès G.

Joint Bone Spine. 2008 Mar;75(2):116-24. Epub 2007 Aug 31. Review.

PMID:
17996473
10.

Gaucher disease: a model disorder for biomarker discovery.

Boot RG, van Breemen MJ, Wegdam W, Sprenger RR, de Jong S, Speijer D, Hollak CE, van Dussen L, Hoefsloot HC, Smilde AK, de Koster CG, Vissers JP, Aerts JM.

Expert Rev Proteomics. 2009 Aug;6(4):411-9. doi: 10.1586/epr.09.54. Review.

PMID:
19681676
11.

[Gaucher disease: diagnosis and treatment].

Fumić K, Stavljenić-Rukavina A, Mrsić M, Potocki K.

Acta Med Croatica. 2004;58(5):353-8. Review. Croatian.

PMID:
15756799
12.

[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
14.

Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention.

Aerts JM, Hollak C, Boot R, Groener A.

Philos Trans R Soc Lond B Biol Sci. 2003 May 29;358(1433):905-14. Review.

15.

Gaucher disease: from fundamental research to effective therapeutic interventions.

de Fost M, Aerts JM, Hollak CE.

Neth J Med. 2003 Jan;61(1):3-8. Review.

16.

Molecular epidemiology of Tay-Sachs disease.

Risch N.

Adv Genet. 2001;44:233-52. Review. No abstract available.

PMID:
11596986
17.

Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis.

Jeyakumar M, Butters TD, Dwek RA, Platt FM.

Neuropathol Appl Neurobiol. 2002 Oct;28(5):343-57. Review.

PMID:
12366816
18.

'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.

Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE.

J Inherit Metab Dis. 2008 Jun;31(3):337-49. doi: 10.1007/s10545-008-0832-y. Epub 2008 Apr 4. Review.

PMID:
18404411
19.

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
20.

Type 2 Gaucher disease: 15 new cases and review of the literature.

Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher Disease Study Group.

Brain Dev. 2006 Jan;28(1):39-48. Review.

PMID:
16485335

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