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Expert recommendations for the laboratory diagnosis of MPS VI.
Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P. Wood T, et al. Among authors: bodamer oa. Mol Genet Metab. 2012 May;106(1):73-82. doi: 10.1016/j.ymgme.2012.02.005. Epub 2012 Feb 10. Mol Genet Metab. 2012. PMID: 22405600
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: bodamer oa. 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
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Camp KM, et al. Among authors: bodamer oa. Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6. Mol Genet Metab. 2014. PMID: 24667081
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Brower A, et al. Front Genet. 2022 Jul 22;13:867337. doi: 10.3389/fgene.2022.867337. eCollection 2022. Front Genet. 2022. PMID: 35938011 Free PMC article.
133 results