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149 results

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Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP).
Schiffmann R, Mengel E, Wallace M, Rochmann C, Turnbull J, Krupnick R, Gwaltney C, Pulikottil-Jacob R, Batsu I, Zheng R, Hamed A. Schiffmann R, et al. Among authors: mengel e. Adv Ther. 2024 Jul;41(7):2907-2923. doi: 10.1007/s12325-024-02881-2. Epub 2024 May 27. Adv Ther. 2024. PMID: 38802634 Free PMC article. Clinical Trial.
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
NP-C Guidelines Working Group; Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topçu M, Vanier MT, Widner H, Wijburg FA, Patterson MC. NP-C Guidelines Working Group, et al. Among authors: mengel e. Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. doi: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14. Mol Genet Metab. 2009. PMID: 19647672
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.
Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: mengel e. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773
The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).
Zimran A, Morris E, Mengel E, Kaplan P, Belmatoug N, Hughes DA, Malinova V, Heitner R, Sobreira E, Mrsić M, Granovsky-Grisaru S, Amato D, vom Dahl S. Zimran A, et al. Among authors: mengel e. Blood Cells Mol Dis. 2009 Nov-Dec;43(3):264-88. doi: 10.1016/j.bcmd.2009.04.003. Epub 2009 Jun 6. Blood Cells Mol Dis. 2009. PMID: 19502088 Review.
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR. Coelho D, et al. Among authors: mengel e. Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26. Nat Genet. 2012. PMID: 22922874 Free article.
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.
Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Müller-Felber W, Glocker FX, Spranger M, Deschauer M, Mengel E, Schoser B. Regnery C, et al. Among authors: mengel e. J Inherit Metab Dis. 2012 Sep;35(5):837-45. doi: 10.1007/s10545-012-9451-8. Epub 2012 Jan 31. J Inherit Metab Dis. 2012. PMID: 22290025 Clinical Trial.
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM. te Vruchte D, et al. Among authors: mengel e. J Clin Invest. 2014 Mar;124(3):1320-8. doi: 10.1172/JCI72835. J Clin Invest. 2014. PMID: 24487591 Free PMC article.
149 results