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Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
Mol Genet Metab. 2015 Dec;116(4):298-304. doi: 10.1016/j.ymgme.2015.10.010. Epub 2015 Oct 26.
Mol Genet Metab. 2015.
PMID: 26643207
Free PMC article.
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.
Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE.
Besse A, et al.
Cell Metab. 2015 Mar 3;21(3):417-27. doi: 10.1016/j.cmet.2015.02.008.
Cell Metab. 2015.
PMID: 25738457
Free PMC article.
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