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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.

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
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.

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.

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
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
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
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.

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
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
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.

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
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.

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
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
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
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.

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
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
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
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