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Items: 11

1.

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani PS, Kolodny EH, Rosenbloom B, Scott CR, Weinreb N.

Am J Hematol. 2017 Sep;92(9):929-939. doi: 10.1002/ajh.24801. Epub 2017 Jul 7.

2.

Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3).

Weinreb NJ, Finegold DN, Feingold E, Zeng Z, Rosenbloom BE, Shankar SP, Amato D.

Orphanet J Rare Dis. 2015 May 22;10:64. doi: 10.1186/s13023-015-0280-3.

3.

Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.

Baris HN, Cohen IJ, Mistry PK.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:72-81. Review.

4.

The European Gaucher Alliance: a survey of member patient organisations' activities, healthcare environments and concerns.

Žnidar I, Collin-Histed T, Niemeyer P, Parkkinen J, Lauridsen AG, Zariņa S, Cohen Y, Manuel J.

Orphanet J Rare Dis. 2014 Sep 2;9:134. doi: 10.1186/s13023-014-0134-4.

5.

Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.

Orenstein M, Barbouth D, Bodamer OA, Weinreb NJ.

Orphanet J Rare Dis. 2014 Mar 31;9:45. doi: 10.1186/1750-1172-9-45.

6.

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H.

Hum Genet. 2013 Oct;132(10):1077-130. doi: 10.1007/s00439-013-1331-2. Epub 2013 Jul 3. Review.

7.

The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.

Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semerano L, Berger MG, Rose C, Camou F, de Roux-Serratrice C, Grosbois B, Kaminsky P, Robert A, Caillaud C, Froissart R, Levade T, Masseau A, Mignot C, Sedel F, Dobbelaere D, Vanier MT, Valayanopoulos V, Fain O, Fantin B, de Villemeur TB, Mentré F, Belmatoug N.

Orphanet J Rare Dis. 2012 Oct 9;7:77. doi: 10.1186/1750-1172-7-77.

8.

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.

9.

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.

10.

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease.

Elstein D, Zimran A.

Biologics. 2009;3:407-17. Epub 2009 Sep 15.

11.

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.

Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK.

Am J Hematol. 2009 Apr;84(4):208-14. doi: 10.1002/ajh.21362.

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