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Page 1
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. Cox TM, et al. Blood. 2017 Apr 27;129(17):2375-2383. doi: 10.1182/blood-2016-12-758409. Epub 2017 Feb 6. Blood. 2017. PMID: 28167660 Free PMC article. Clinical Trial.
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
Shammas C, Papasavva T, Felekis X, Christophorou C, Roomere H, Synodinos JT, Kanavakis E, El-Khateeb M, Hamamy H, Mahmoud T, Shboul M, El Beshlawy A, Filon D, Hussein IR, Galanello R, Romeo G, Kleanthous M. Shammas C, et al. Clin Chem Lab Med. 2010 Dec;48(12):1713-8. doi: 10.1515/CCLM.2010.331. Epub 2010 Aug 13. Clin Chem Lab Med. 2010. PMID: 20704537
An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.
Lederer CW, Basak AN, Aydinok Y, Christou S, El-Beshlawy A, Eleftheriou A, Fattoum S, Felice AE, Fibach E, Galanello R, Gambari R, Gavrila L, Giordano PC, Grosveld F, Hassapopoulou H, Hladka E, Kanavakis E, Locatelli F, Old J, Patrinos GP, Romeo G, Taher A, Traeger-Synodinos J, Vassiliou P, Villegas A, Voskaridou E, Wajcman H, Zafeiropoulos A, Kleanthous M. Lederer CW, et al. Hemoglobin. 2009;33(3):163-76. doi: 10.1080/03630260903089177. Hemoglobin. 2009. PMID: 19657830
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. Kaplan P, et al. Eur J Pediatr. 2013 Apr;172(4):447-58. doi: 10.1007/s00431-012-1771-z. Epub 2012 Jul 8. Eur J Pediatr. 2013. PMID: 22772880 Review.
A 1-year randomized controlled trial of deferasirox vs deferoxamine for myocardial iron removal in β-thalassemia major (CORDELIA).
Pennell DJ, Porter JB, Piga A, Lai Y, El-Beshlawy A, Belhoul KM, Elalfy M, Yesilipek A, Kilinç Y, Lawniczek T, Habr D, Weisskopf M, Zhang Y, Aydinok Y; CORDELIA study investigators. Pennell DJ, et al. Blood. 2014 Mar 6;123(10):1447-54. doi: 10.1182/blood-2013-04-497842. Epub 2014 Jan 2. Blood. 2014. PMID: 24385534 Free PMC article. Clinical Trial.
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. El-Beshlawy A, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):47-56. doi: 10.1016/j.ymgme.2016.12.001. Epub 2016 Dec 6. Mol Genet Metab. 2017. PMID: 28040394 Free article. Clinical Trial.
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Blood Cells Mol Dis. 2018 Jul;71:71-74. doi: 10.1016/j.bcmd.2018.04.001. Epub 2018 Apr 9. Blood Cells Mol Dis. 2018. PMID: 29680197 Free article. No abstract available.
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Blood Cells Mol Dis. 2019 Jul;77:101-102. doi: 10.1016/j.bcmd.2019.04.003. Epub 2019 Apr 9. Blood Cells Mol Dis. 2019. PMID: 31029022 No abstract available.
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