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Items: 1 to 20 of 26

1.

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1.

Ganz ML, Stern S, Ward A, Nalysnyk L, Selzer M, Hamed A, Weinreb N.

Orphanet J Rare Dis. 2017 Feb 20;12(1):38. doi: 10.1186/s13023-017-0592-6.

2.

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.

Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani PS, Pedroso ML, Gaemers SJM, Tayag R, Peterschmitt MJ.

Blood. 2017 Apr 27;129(17):2375-2383. doi: 10.1182/blood-2016-12-758409. Epub 2017 Feb 6.

3.

Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease.

Limgala RP, Ioanou C, Plassmeyer M, Ryherd M, Kozhaya L, Austin L, Abidoglu C, Unutmaz D, Alpan O, Goker-Alpan O.

PLoS One. 2016 Dec 12;11(12):e0168135. doi: 10.1371/journal.pone.0168135. eCollection 2016.

4.

Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy.

Serratrice C, Carballo S, Serratrice J, Stirnemann J.

Core Evid. 2016 Oct 14;11:37-47. eCollection 2016. Review.

5.

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.

Zimmermann A, Rossmann H, Bucerzan S, Grigorescu-Sido P.

Case Rep Genet. 2016;2016:8154910. doi: 10.1155/2016/8154910. Epub 2016 Jan 17.

6.

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.

7.

Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.

Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers YM, Baron C, Belmatoug N.

Orphanet J Rare Dis. 2015 May 13;10:62. doi: 10.1186/s13023-015-0275-0.

8.

Study of enzyme replacement therapy for Gaucher Disease: comparative analysis of clinical and laboratory parameters at diagnosis and after two, five and ten years of treatment.

Souza AM, Muniz TP, Brito RM.

Rev Bras Hematol Hemoter. 2014 Sep-Oct;36(5):345-50. doi: 10.1016/j.bjhh.2014.05.005. Epub 2014 May 28.

9.

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.

10.

Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience.

Tukan I, Hadas-Halpern I, Altarescu G, Abrahamov A, Elstein D, Zimran A.

Adv Hematol. 2013;2013:151506. doi: 10.1155/2013/151506. Epub 2013 Oct 28.

11.

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA.

Am J Hematol. 2013 Mar;88(3):172-8. doi: 10.1002/ajh.23383. Epub 2013 Jan 22.

12.

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.

13.

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.

Weinreb NJ, Goldblatt J, Villalobos J, Charrow J, Cole JA, Kerstenetzky M, vom Dahl S, Hollak C.

J Inherit Metab Dis. 2013 May;36(3):543-53. doi: 10.1007/s10545-012-9528-4. Epub 2012 Sep 14. Erratum in: J Inherit Metab Dis. 2014 Jan;37(1):147.

14.

Imiglucerase in the treatment of Gaucher disease: a history and perspective.

Deegan PB, Cox TM.

Drug Des Devel Ther. 2012;6:81-106. doi: 10.2147/DDDT.S14395. Epub 2012 Apr 18. Review.

15.

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.

16.

Velaglucerase alfa in the treatment of Gaucher disease type 1.

Burrow TA, Grabowski GA.

Clin Investig (Lond). 2011 Feb;1(2):285-293.

17.

Reducing selection bias in case-control studies from rare disease registries.

Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A.

Orphanet J Rare Dis. 2011 Sep 12;6:61. doi: 10.1186/1750-1172-6-61.

18.

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity.

Stein P, Yang R, Liu J, Pastores GM, Mistry PK.

J Inherit Metab Dis. 2011 Apr;34(2):429-37. doi: 10.1007/s10545-010-9271-7. Epub 2011 Feb 3.

19.

Gaucher disease: clinical profile and therapeutic developments.

Cox TM.

Biologics. 2010 Dec 6;4:299-313. doi: 10.2147/BTT.S7582.

20.

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

Mistry PK, Cappellini MD, Lukina E, Ozsan H, Mach Pascual S, Rosenbaum H, Helena Solano M, Spigelman Z, Villarrubia J, Watman NP, Massenkeil G.

Am J Hematol. 2011 Jan;86(1):110-5. doi: 10.1002/ajh.21888.

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