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958 results

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Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Puckett RL, et al. Among authors: wang ry. Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25. Mol Genet Metab. 2012. PMID: 22115770
The emerging phenotype of long-term survivors with infantile Pompe disease.
Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS. Prater SN, et al. Among authors: wang ry. Genet Med. 2012 Sep;14(9):800-10. doi: 10.1038/gim.2012.44. Epub 2012 Apr 26. Genet Med. 2012. PMID: 22538254 Free PMC article.
Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I.
Provenzale JM, Nestrasil I, Chen S, Kan SH, Le SQ, Jens JK, Snella EM, Vondrak KN, Yee JK, Vite CH, Elashoff D, Duan L, Wang RY, Ellinwood NM, Guzman MA, Shapiro EG, Dickson PI. Provenzale JM, et al. Among authors: wang ry. Exp Neurol. 2015 Nov;273:1-10. doi: 10.1016/j.expneurol.2015.07.021. Epub 2015 Jul 26. Exp Neurol. 2015. PMID: 26222335 Free PMC article.
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.
Kazi ZB, Desai AK, Berrier KL, Troxler RB, Wang RY, Abdul-Rahman OA, Tanpaiboon P, Mendelsohn NJ, Herskovitz E, Kronn D, Inbar-Feigenberg M, Ward-Melver C, Polan M, Gupta P, Rosenberg AS, Kishnani PS. Kazi ZB, et al. Among authors: wang ry. JCI Insight. 2017 Aug 17;2(16):e94328. doi: 10.1172/jci.insight.94328. eCollection 2017 Aug 17. JCI Insight. 2017. PMID: 28814660 Free PMC article.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS; Pompe ADVANCE Study Consortium. Hahn SH, et al. Among authors: wang ry. Genet Med. 2018 Oct;20(10):1284-1294. doi: 10.1038/gim.2018.2. Epub 2018 Mar 22. Genet Med. 2018. PMID: 29565424 Free article. Clinical Trial.
958 results