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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Among authors: hung cy. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
Transcobalamin II deficiency at birth.
Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA. Ratschmann R, et al. Mol Genet Metab. 2009 Nov;98(3):285-8. doi: 10.1016/j.ymgme.2009.06.003. Epub 2009 Jun 6. Mol Genet Metab. 2009. PMID: 19581117
Laboratory and genetic evaluation of Gaucher disease.
Bodamer OA, Hung C. Bodamer OA, et al. Wien Med Wochenschr. 2010 Dec;160(23-24):600-4. doi: 10.1007/s10354-010-0814-1. Epub 2010 Aug 16. Wien Med Wochenschr. 2010. PMID: 20714811 Review.
Analysis of lyso-globotriaosylsphingosine in dried blood spots.
Johnson B, Mascher H, Mascher D, Legnini E, Hung CY, Dajnoki A, Chien YH, Maródi L, Hwu WL, Bodamer OA. Johnson B, et al. Among authors: hung cy. Ann Lab Med. 2013 Jul;33(4):274-8. doi: 10.3343/alm.2013.33.4.274. Epub 2013 Jun 24. Ann Lab Med. 2013. PMID: 23826564 Free PMC article.
524 results