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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.
Diagnosis of copper transport disorders.
Møller LB, Hicks JD, Holmes CS, Goldstein DS, Brendl C, Huppke P, Kaler SG. Møller LB, et al. Curr Protoc Hum Genet. 2011 Jul;Chapter 17:Unit17.9. doi: 10.1002/0471142905.hg1709s70. Curr Protoc Hum Genet. 2011. PMID: 21735378 Free PMC article.