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Items: 1 to 20 of 30

1.

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.

Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N, Sidransky E.

Mol Genet Metab. 2002 Aug;76(4):262-70.

PMID:
12208131
2.

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
3.

Genotype-phenotype pitfalls in Gaucher disease.

Strasberg PM, Triggs-Raine BL, Warren IB, Skomorowski MA, McInnes B, Becker LE, Callahan JW, Clarke JT.

J Clin Lab Anal. 1994;8(4):228-36. Review.

PMID:
7931818
4.

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
5.

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

Germain DP.

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

PMID:
15261378
6.

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
7.

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
8.

Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation.

Svennerholm L, Erikson A, Groth CG, Ringdén O, Månsson JE.

Dev Neurosci. 1991;13(4-5):345-51. Review.

PMID:
1817041
9.

Gaucher disease: complexity in a "simple" disorder.

Sidransky E.

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

PMID:
15464415
10.

Neuronopathic forms of Gaucher's disease.

Erikson A, Bembi B, Schiffmann R.

Baillieres Clin Haematol. 1997 Dec;10(4):711-23. Review.

PMID:
9497859
11.

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.

12.

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
13.

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.

Alfonso P, Aznarez S, Giralt M, Pocovi M, Giraldo P; Spanish Gaucher's Disease Registry.

J Hum Genet. 2007;52(5):391-6. Epub 2007 Apr 11. Review.

PMID:
17427031
14.

Gaucher disease.

Guggenbuhl P, Grosbois B, Chalès G.

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

PMID:
17996473
15.

[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
16.

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A.

Eur J Pediatr. 2004 Feb;163(2):58-66. Epub 2003 Dec 16. Review.

PMID:
14677061
17.

Gaucher's disease: a paradigm for interventional genetics.

Germain DP.

Clin Genet. 2004 Feb;65(2):77-86. Review.

PMID:
14984463
18.

[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
20.

Hematological manifestations and complications of Gaucher disease.

Linari S, Castaman G.

Expert Rev Hematol. 2016 Jan;9(1):51-8. doi: 10.1586/17474086.2016.1112732. Epub 2015 Nov 13. Review.

PMID:
26565753

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