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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S, Gieldon L, Pang Y, Peitzsch M, Huynh T, Leton R, Viana B, Ercolino T, Mangelis A, Rapizzi E, Menschikowski M, Aust D, Kroiss M, Beuschlein F, Gudziol V, Timmers HJ, Lenders J, Mannelli M, Cascon A, Pacak K, Robledo M, Eisenhofer G, Klink B. Richter S, et al. Among authors: eisenhofer g. Genet Med. 2019 Mar;21(3):705-717. doi: 10.1038/s41436-018-0106-5. Epub 2018 Jul 27. Genet Med. 2019. PMID: 30050099 Free PMC article.
Plasma metanephrines in the diagnosis of pheochromocytoma.
Lenders JW, Keiser HR, Goldstein DS, Willemsen JJ, Friberg P, Jacobs MC, Kloppenborg PW, Thien T, Eisenhofer G. Lenders JW, et al. Among authors: eisenhofer g. Ann Intern Med. 1995 Jul 15;123(2):101-9. doi: 10.7326/0003-4819-123-2-199507150-00004. Ann Intern Med. 1995. PMID: 7778821 Free article.
550 results