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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
J Inherit Metab Dis. 2018 Mar;41(2):169-180. doi: 10.1007/s10545-017-0106-7. Epub 2017 Dec 13.
J Inherit Metab Dis. 2018.
PMID: 29238895
Free PMC article.
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
Nota B, Hamilton EM, Sie D, Ozturk S, van Dooren SJ, Ojeda MR, Jakobs C, Christensen E, Kirk EP, Sykut-Cegielska J, Lund AM, van der Knaap MS, Salomons GS.
Nota B, et al. Among authors: ojeda mr.
J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961. Epub 2013 Sep 18.
J Med Genet. 2013.
PMID: 24049096
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