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Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
Sauer SW, Okun JG, Fricker G, Mahringer A, Müller I, Crnic LR, Mühlhausen C, Hoffmann GF, Hörster F, Goodman SI, Harding CO, Koeller DM, Kölker S. Sauer SW, et al. Among authors: okun jg. J Neurochem. 2006 May;97(3):899-910. doi: 10.1111/j.1471-4159.2006.03813.x. Epub 2006 Mar 29. J Neurochem. 2006. PMID: 16573641 Free article.
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
Haas D, Morgenthaler J, Lacbawan F, Long B, Runz H, Garbade SF, Zschocke J, Kelley RI, Okun JG, Hoffmann GF, Muenke M. Haas D, et al. Among authors: okun jg. J Med Genet. 2007 May;44(5):298-305. doi: 10.1136/jmg.2006.047258. Epub 2007 Jan 19. J Med Genet. 2007. PMID: 17237122 Free PMC article.
Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus.
Sauer SW, Opp S, Mahringer A, Kamiński MM, Thiel C, Okun JG, Fricker G, Morath MA, Kölker S. Sauer SW, et al. Among authors: okun jg. Biochim Biophys Acta. 2010 Jun;1802(6):552-60. doi: 10.1016/j.bbadis.2010.03.003. Epub 2010 Mar 17. Biochim Biophys Acta. 2010. PMID: 20302929 Free article.
Differential diagnosis in patients with suspected bile acid synthesis defects.
Haas D, Gan-Schreier H, Langhans CD, Rohrer T, Engelmann G, Heverin M, Russell DW, Clayton PT, Hoffmann GF, Okun JG. Haas D, et al. Among authors: okun jg. World J Gastroenterol. 2012 Mar 14;18(10):1067-76. doi: 10.3748/wjg.v18.i10.1067. World J Gastroenterol. 2012. PMID: 22416181 Free PMC article.
169 results