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Editorial: Prevention, diagnosis and treatment of rare disorders.
Cox TM, Tylki-Szymańska A, Aymé S, Dooms M. Cox TM, et al. Among authors: tylki szymanska a. Front Pharmacol. 2022 Sep 28;13:1026064. doi: 10.3389/fphar.2022.1026064. eCollection 2022. Front Pharmacol. 2022. PMID: 36249823 Free PMC article. No abstract available.
Therapeutic goals in the treatment of Gaucher disease.
Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A. Pastores GM, et al. Semin Hematol. 2004 Oct;41(4 Suppl 5):4-14. doi: 10.1053/j.seminhematol.2004.07.009. Semin Hematol. 2004. PMID: 15468045 Review.
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.
Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki-Szymanska A, Yee J, Weinreb N. Cox TM, et al. J Inherit Metab Dis. 2008 Jun;31(3):319-36. doi: 10.1007/s10545-008-0779-z. Epub 2008 May 23. J Inherit Metab Dis. 2008. PMID: 18509745 Review.
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, Machaczka M, Marinakis T, Mengel E, Pastores GM, Plöckinger U, Rosenbaum H, Serratrice C, Symeonidis A, Szer J, Timmerman J, Tylki-Szymańska A, Weisz Hubshman M, Zafeiriou DI, Zimran A, Hollak CEM. Biegstraaten M, et al. Blood Cells Mol Dis. 2018 Feb;68:203-208. doi: 10.1016/j.bcmd.2016.10.008. Epub 2016 Oct 24. Blood Cells Mol Dis. 2018. PMID: 28274788 Free article.
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
Hollak CE, vom Dahl S, Aerts JM, Belmatoug N, Bembi B, Cohen Y, Collin-Histed T, Deegan P, van Dussen L, Giraldo P, Mengel E, Michelakakis H, Manuel J, Hrebicek M, Parini R, Reinke J, di Rocco M, Pocovi M, Sa Miranda MC, Tylki-Szymanska A, Zimran A, Cox TM. Hollak CE, et al. Blood Cells Mol Dis. 2010 Jan 15;44(1):41-7. doi: 10.1016/j.bcmd.2009.09.006. Epub 2009 Oct 4. Blood Cells Mol Dis. 2010. PMID: 19804996
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.
Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A. Linthorst GE, et al. JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14. JIMD Rep. 2013. PMID: 23430520 Free PMC article.
Editorial: Inherited Protein Glycosylation Defects in Humans.
Jezela-Stanek A, Stepien KM, Tylki-Szymanska A. Jezela-Stanek A, et al. Front Genet. 2022 Mar 14;13:851438. doi: 10.3389/fgene.2022.851438. eCollection 2022. Front Genet. 2022. PMID: 35368693 Free PMC article. No abstract available.
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin JC, Lefevre M, Olivier C, Tardieu S, Krivit W, Moser H, Moser A, Gieselmann V, Zalc B, Cox T, Reuner U, Tylki-Szymanska A, Aboul-Enein F, LeGuern E, Bernheimer H, Berger J. Rauschka H, et al. Neurology. 2006 Sep 12;67(5):859-63. doi: 10.1212/01.wnl.0000234129.97727.4d. Neurology. 2006. PMID: 16966551
268 results