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Results: 1 to 20 of 101

1.

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK.

Am J Hematol. 2012 Apr;87(4):377-83. doi: 10.1002/ajh.23118. Epub 2012 Mar 3.

PMID:
22388998
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Pulmonary involvement in siblings with Gaucher disease type III.

Djordjević M, Minić P, Sarajlija A, Djuricic SM, Djokić D, Marković O.

Vojnosanit Pregl. 2011 Dec;68(12):1071-4.

PMID:
22352271
[PubMed - indexed for MEDLINE]
3.

Adult Gaucher disease in southern Tunisia: report of three cases.

Ben Rhouma F, Kallel F, Kefi R, Cherif W, Nagara M, Azaiez H, Jedidi I, Elloumi M, Abdelhak S, Mseddi S.

Diagn Pathol. 2012 Jan 10;7:4. doi: 10.1186/1746-1596-7-4.

PMID:
22233685
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions.

Baris HN, Raas-Rothschild A, Garty BZ, Tor R, Klontz S, Tayebi N, Sidransky E, Cohen IJ.

Blood Cells Mol Dis. 2011 Dec 15;47(4):262-3. doi: 10.1016/j.bcmd.2011.08.002. Epub 2011 Sep 1. No abstract available.

PMID:
21889374
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene.

Akdag A, Oğuz SS, Ezgü F, Erdeve O, Uraş N, Dilmen U.

J Pediatr Endocrinol Metab. 2011;24(5-6):381-3.

PMID:
21823541
[PubMed - indexed for MEDLINE]
6.

Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.

Haverkaemper S, Marquardt T, Hausser I, Timme K, Kuehn T, Hertzberg C, Rossi R.

Neonatology. 2011;100(2):194-7. doi: 10.1159/000324116. Epub 2011 Apr 1.

PMID:
21455010
[PubMed - indexed for MEDLINE]
7.

Gaucher disease in sheep.

Karageorgos L, Lancaster MJ, Nimmo JS, Hopwood JJ.

J Inherit Metab Dis. 2011 Feb;34(1):209-15. doi: 10.1007/s10545-010-9230-3. Epub 2010 Oct 27.

PMID:
20978939
[PubMed - indexed for MEDLINE]
8.

Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ.

Arch Intern Med. 2010 Sep 13;170(16):1463-9. doi: 10.1001/archinternmed.2010.302. Erratum in: Arch Intern Med. 2010 Nov 8;170(20):1833.

PMID:
20837833
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?

Eitan Y, Abrahamov A, Phillips M, Elstein D, Zimran A.

Prenat Diagn. 2010 Oct;30(10):924-7. doi: 10.1002/pd.2584.

PMID:
20721872
[PubMed - indexed for MEDLINE]
10.

Gaucher disease: frequency of the N370S mutation in the Greek population.

Dimitriou E, Moraitou M, Troungos C, Schulpis K, Michelakakis H.

Clin Genet. 2010 Aug;78(2):195-6. doi: 10.1111/j.1399-0004.2010.01381.x. No abstract available.

PMID:
20662857
[PubMed - indexed for MEDLINE]
11.

In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.

Sun Y, Liou B, Quinn B, Ran H, Xu YH, Grabowski GA.

PLoS One. 2009 Oct 7;4(10):e7320. doi: 10.1371/journal.pone.0007320.

PMID:
19809509
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The clinical course of untreated Gaucher disease in 22 patients over 10 years: hematological and skeletal manifestations.

Piran S, Roberts A, Patterson MA, Amato D.

Blood Cells Mol Dis. 2009 Nov-Dec;43(3):289-93. doi: 10.1016/j.bcmd.2009.08.002. Epub 2009 Sep 30.

PMID:
19793665
[PubMed - indexed for MEDLINE]
13.

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.

Aviner S, Garty BZ, Rachmel A, Baris HN, Sidransky E, Shuffer A, Attias J, Yaniv Y, Cohen IJ.

Blood Cells Mol Dis. 2009 Nov-Dec;43(3):294-7. doi: 10.1016/j.bcmd.2009.08.004. Epub 2009 Sep 5. Review.

PMID:
19734074
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Apparent diffusion coefficient vale of the brain in patients with Gaucher's disease type II and type III.

Abdel Razek AA, Abd El-Gaber N, Abdalla A, Fathy A, Azab A, Rahman AA.

Neuroradiology. 2009 Nov;51(11):773-9. doi: 10.1007/s00234-009-0548-1. Epub 2009 Jul 15.

PMID:
19603156
[PubMed - indexed for MEDLINE]
15.

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease.

Torralba MA, Pérez-Calvo JI.

J Inherit Metab Dis. 2009 Jun;32(3):453-4; author reply 455-6. doi: 10.1007/s10545-009-1114-z. Epub 2009 Mar 27. No abstract available.

PMID:
19322674
[PubMed - indexed for MEDLINE]
16.

Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?

Brunel-Guitton C, Rivard GE, Galipeau J, Alos N, Miron MC, Therrien R, Mitchell G, Lapierre G, Lambert M.

Mol Genet Metab. 2009 Feb;96(2):73-6. doi: 10.1016/j.ymgme.2008.11.158. Epub 2008 Dec 10.

PMID:
19083253
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
18.

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

Cox-Brinkman J, van Breemen MJ, van Maldegem BT, Bour L, Donker WE, Hollak CE, Wijburg FA, Aerts JM.

J Inherit Metab Dis. 2008 Dec;31(6):745-52. doi: 10.1007/s10545-008-0873-2. Epub 2008 Oct 15.

PMID:
18850301
[PubMed - indexed for MEDLINE]
19.

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.

Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D.

Hum Mutat. 2008 Jun;29(6):E58-67. doi: 10.1002/humu.20776.

PMID:
18429048
[PubMed - indexed for MEDLINE]
20.

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.

Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E.

Neurology. 2008 Mar 18;70(12):976-8. doi: 10.1212/01.wnl.0000305963.37449.32. No abstract available.

PMID:
18347322
[PubMed - indexed for MEDLINE]

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