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Items: 1 to 20 of 168

1.

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
2.

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

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

Eur J Pediatr. 2004 Feb;163(2):67-75. Epub 2003 Dec 16. Review.

PMID:
14677062
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: pediatric concerns.

Elstein D, Abrahamov A, Dweck A, Hadas-Halpern I, Zimran A.

Paediatr Drugs. 2002;4(7):417-26. Review.

PMID:
12083970
5.

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
6.

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
7.

[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
8.

Mutation analysis of 28 Gaucher disease patients: the Australasian experience.

Lewis BD, Nelson PV, Robertson EF, Morris CP.

Am J Med Genet. 1994 Jan 15;49(2):218-23.

PMID:
8116672
9.

Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients.

El-Beshlawy A, Ragab L, Youssry I, Yakout K, El-Kiki H, Eid K, Mansour IM, Abd El-Hamid S, Yang M, Mistry PK.

J Inherit Metab Dis. 2006 Feb;29(1):92-8.

PMID:
16601874
10.

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
11.

Therapeutic goals in the treatment of Gaucher disease.

Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A.

Semin Hematol. 2004 Oct;41(4 Suppl 5):4-14. Review.

PMID:
15468045
12.

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

Germain DP.

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

PMID:
15261378
13.

Enhanced calcium release in the acute neuronopathic form of Gaucher disease.

Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, Sidransky E, Schiffmann R, Futerman AH.

Neurobiol Dis. 2005 Feb;18(1):83-8.

PMID:
15649698
14.

Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion.

Mistry PK, Weinthal JA, Weinreb NJ.

Clin Adv Hematol Oncol. 2012 Jun;10(6 Suppl 8):1-16.

PMID:
22895100
15.

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E.

Pediatr Res. 2003 Mar;53(3):387-95.

PMID:
12595585
16.

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
17.

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.

Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S.

J Inherit Metab Dis. 2008 Dec;31(6):738-44. doi: 10.1007/s10545-008-0868-z. Epub 2008 Nov 3.

PMID:
18979180
18.

The role of neurogenetics in Gaucher disease.

Brady RO, Barton NW, Grabowski GA.

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

PMID:
8215980
19.

Divergent phenotypes in Gaucher disease implicate the role of modifiers.

Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, Sidransky E.

J Med Genet. 2005 Jun;42(6):e37.

20.

[Phenotype and mutational spectrum in Tunisian pediatric gaucher disease].

Ben Turkia H, Riahi I, Azzouz H, Ladab S, Cherif W, Ben Chehida A, Abdelmoula MS, Caillaud C, Chemli J, Abdelhak S, Tebib N, Ben Dridi MF.

Tunis Med. 2010 Mar;88(3):158-62. French.

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