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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: wuyts b. 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
Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
Ng BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, Freeze HH. Ng BG, et al. Among authors: wuyts b. Mol Genet Metab. 2007 Jun;91(2):201-4. doi: 10.1016/j.ymgme.2007.02.011. Epub 2007 Mar 28. Mol Genet Metab. 2007. PMID: 17395513 Free PMC article.
First inter-laboratory study of a Supercritical Fluid Chromatography method for the determination of pharmaceutical impurities.
Dispas A, Marini R, Desfontaine V, Veuthey JL, Kotoni D, Losacco LG, Clarke A, Muscat Galea C, Mangelings D, Jocher BM, Regalado EL, Plachká K, Nováková L, Wuyts B, François I, Gray M, Aubin AJ, Tarafder A, Cazes M, Desvignes C, Villemet L, Sarrut M, Raimbault A, Lemasson E, Lesellier E, West C, Leek T, Wong M, Dai L, Zhang K, Grand-Guillaume Perrenoud A, Brunelli C, Hennig P, Bertin S, Mauge F, Da Costa N, Farrell WP, Hill M, Desphande N, Grangrade M, Sadaphule S, Yadav R, Rane S, Shringare S, Iguiniz M, Heinisch S, Lefevre J, Corbel E, Roques N, Heyden YV, Guillarme D, Hubert P. Dispas A, et al. Among authors: wuyts b. J Pharm Biomed Anal. 2018 Nov 30;161:414-424. doi: 10.1016/j.jpba.2018.08.042. Epub 2018 Aug 23. J Pharm Biomed Anal. 2018. PMID: 30216790
68 results