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Page 1
Research challenges in central nervous system manifestations of inborn errors of metabolism.
Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Dickson PI, et al. Mol Genet Metab. 2011 Mar;102(3):326-38. doi: 10.1016/j.ymgme.2010.11.164. Epub 2010 Dec 2. Mol Genet Metab. 2011. PMID: 21176882 Free PMC article. Review.
NCL diseases - clinical perspectives.
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. Schulz A, et al. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17. Biochim Biophys Acta. 2013. PMID: 23602993 Free PMC article.
A diagnostic confidence scheme for CLN3 disease.
Masten MC, Corre C, Paciorkowski AR, Vierhile A, Adams HR, Vermilion J, Zimmerman GA, Augustine EF, Mink JW. Masten MC, et al. J Inherit Metab Dis. 2021 Nov;44(6):1453-1462. doi: 10.1002/jimd.12429. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34453334 Free PMC article.
22 results